Full data view for gene ATM

The variants shown are described using the transcript reference sequence.

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Effect: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.

Exon: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.

DNA change (cDNA): Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.

Protein: Description of variant at protein level (following HGVS recommendations).

p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced

Zygosity: Homozygous or Heterozygous
All options:

Homo
Hetero
Not specified

Co_ocurrence: If the variant is present in co-ocurrence with a mutation, please select the name of the mutated gene. If not, please select "no".
All options:

no
N/A
BRCA1
BRCA2
CHEK2
FANCC
MLH1
MSH2
MSH6
MUTYH
PALB2
PMS2
PTEN
APC
TP53
STK11
TSC1
RET
VHL
PALB2
NBN
CDKN2A
LZTR1
ATM
ERCC5
NF1
SDHB
BARD1
NTHL1
FANCC
BLM

RNA change: Description of variant at RNA level (following HGVS recommendations).

r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription

Review status: prueba

Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.

DNA change (genomic) (hg38): Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).

g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup

Reference: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".

DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.

dbSNP ID: The dbSNP ID.

Variant remarks: Remarks regarding the variant described, e.g. germline mosaicism in mother, 345 kb deletion, muscle RNA analysed, not in 200 control chromosomes tested, on founder haplotype, etc.

Template: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
All options:

DNA
RNA = RNA (cDNA)
Protein
? = unknown

Technique: Technique(s) used to identify the sequence variant.
All options:

? = Unknown
SEQ-NG = Next-Generation Sequencing
SEQ = SEQuencing
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CNV
CSCE = Conformation Sensitive Capillary Electrophoresis
DECoN = Detection of Exon Copy Number variants
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting
in-house algorithm for CNV
z-score-CNV = z-score based algorithm for CNV detection in targeted NGS

Date of test: Date in which the results of the test were informed to the pacient

Lab: Name of the Laboratory that performed the screening.
All options:

ARGENETICS
ARGENOMICS - Fundacion Investigar
Biocodices S.A.
Biogenotec
BIOMAKERS Molecular Pathology & Research
Bionet
Centro de Diagnostico Molecular (CDM)
Centro de Educación Médica e Investigaciones Clínicas (CEMIC)
Centro de Estudios Geneticos (CEG)
Centro de Investigaciones Endocrinologicas “Dr. Cesar Bergada” (CEDIE)
Centro Nacional de Genetica Medica "Dr. Eduardo E. Castilla" (CENAGEM)
Centro Privado Internacional de Medicina Personalizada - CEPIMP Genomics
CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS
Clínica Universitaria Reina Fabiola
Dasa Genómica - Genia
Diagnus Lab
Domeq&Lafage
Fundacion BIOGEN
Fundación para el Progreso de la Medicina
FUNDAGEN S.A.
Gammalab - Grupo Gamma S.A.
GENDA
Genesia - Progenitest
GENOS
Grupo de investigacion en Genetica Aplicada (GIGA)
Hospital Alemán
Hospital de Gastroenterología Dr. Carlos Bonorino Udaondo
Hospital Italiano de Buenos Aires
Hospital Privado Centro Médico de Córdoba
Hospital Universitario Austral
IACA Laboratorios
Instituto Alexander Fleming
Laboratorio Barros
Laboratorio de Biologia Celular y Molecular IHEM-CONICET CCT Mendoza
Laboratorio Dr. Rapela
Laboratorio Dra. Marta Cortelezzi
Laboratorio Fares Taie
Laboratorio Flores
Laboratorio Hidalgo S.A.
Laboratorio High Medic Group S.A.
Laboratorio Integral SRL
Laboratorio Maipu
Laboratorio Motter
Laboratorio NANNI
Laboratorio Tucumán
Laboratorios Turner
LACE Laboratorios
MANLAB
MEDgenomica
PRICAI-Primer Centro Argentino de Inmunogenética-Fundación Favaloro
Sanatorio Allende
Stamboulian Laboratorio
STEM
VZ Laboratorios
Zoigen
AMBRY GENETICS
Baylor Genetics
Blueprint Genetics
CENTOGENE
COLOR
GENE ONE
Health in code
Iden Gene
IMEGEN
INVITAE
Laboratorio ATGen (E)
Laboratorio ATGen
MACROGEN
Myriad Genetics
SENTIS
Sistemas Genómicos
------
Color
Genda
Genda/Color
Genesia
Genesia/Invitae
Genia/Invitae
Genia/Color
Genia
Genos
Genos/Color
Hospital Privado Centro Médico de Córdoba
Hospital Privado Centro médico de Córdoba/IACA
Héritas
IACA
Invitae
AbaCid
Ambry Genetics
Alexander Fleming
Alexander Fleming/Baylor College
Alexander Fleming/Genesia-INVITAE
Argenomics
Baylor Genetics
BIOGEN
Biogenotec
BIOMAKERS Molecular Pathology & Research
BIONET
Blueprint Genetics
CEDIE
CEG
CEMIC
Centro de diagnóstico molecular
CEPIMP Genomics
CeNaGeM
Centogene
CIBIC
CIBIC/Héritas
Ciscato&Sharovsky
Clinica Universitaria Reina Fabiola
DIAGNUS LAB
Domeq&Lafage
Dr. Rapela
Fares Taie
FARESTAIE/Héritas
FAVALORO-PRICAI
Fundación para el Progreso de la Medicina
Fundación para el Progreso de la Medicina/CIBIC/Héritas
Fundagen
Gammalab
GeneDx
GIGA
Health in code
Hidalgo
High Medic Group
Hospital Alemán
Hospital de Gastroenterologia
Sanatorio Allende
MEDgenomica
LACE
HEMA
Centro médico de Córdoba
DASA-INVITAE
Bioscreen Rosario

Remarks: Remarks

Type of test: Type of test
All options:

Known familial mutation
Multigenetic panel
Specific pathology
Ashkenazi panel
Germline variant found in somatic testing
Whole exome

Ethnic origin: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).

Reference: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.

Remarks: Remarks about the individual.

Cuadro familiar: Principales canceres que motivan la sospecha clinica

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

257 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		Next ›	Last »

Effect	Exon	DNA change (cDNA)	Protein	Zygosity	Co_ocurrence	RNA change	Review status	Allele	DNA change (genomic) (hg38)	Reference	DB-ID	dbSNP ID	Variant remarks	Template	Technique	Date of test	Lab	Remarks	Type of test	Disease	Ethnic origin	Reference	Remarks	Cuadro familiar	Panel size	Owner
-?/-?	3	c.87A>G	p.(=)	Hetero	no	r.(=)	RECLASSIFIED NOVEMBER 2020	Unknown	g.108227790A>G	-	ATM_000013	-	-	DNA	SEQ-NG, z-score-CNV	10-mar-2017	Héritas	Panel Héritas (8 genes)	Multigenetic panel	-	Not available	-	-	-	1	Gonzalo Tabares-CEMA
?/?	3	c.146C>G	p.(Ser49Cys)	Hetero	no	r.(?)	-	Unknown	g.108227849C>G	-	ATM_000035	-	-	DNA	SEQ-NG	30-oct-2018	Hospital Privado Centro Médico de Córdoba	Panel breast&, ovarian 24 genes (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, CDC73, DICER1, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53)	Multigenetic panel	Breast cancer	Italian	-	-	Breast cancer	1	Norma Rossi-Hospital de Córdoba
-/-	3	c.146C>G	p.(Ser49Cys)	Not specified	ATM	r.(?)	RECLASSIFIED NOVEMBER 2020	Unknown	g.108227849C>G	-	ATM_000035	-	-	DNA	CNV, SEQ-NG	4-oct-2019	IACA	-	Multigenetic panel	Breast cancer	Spanish-Italian-Argentinian	-	(antec personales/explica cuadro)	Breast cancer	1	Silvina Sisterna-Hospital de Comunidad
?/-	3	c.146C>G	p.(Ser49Cys)	Hetero	no	r.(?)	-	Unknown	g.108227849C>G	-	ATM_000035	-	-	DNA	SEQ-NG	27-jul-2021	Hospital Privado Centro Médico de Córdoba	Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP54	Multigenetic panel	-	Italian	-	-	-	1	Claudia Martin-Hospital de Córdoba
?/-	3	c.146C>G	p.(Ser49Cys)	Hetero	no	r.(?)	-	Unknown	g.108227849C>G	-	ATM_000035	-	-	DNA	SEQ-NG	27-jul-2021	Hospital Privado Centro Médico de Córdoba	Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP54	Multigenetic panel	-	Italian	-	-	-	1	Claudia Martin-Hospital de Córdoba
-?/-?	4	c.276A>G	p.(=)	Hetero	no	r.(=)	-	Unknown	g.108229268A>G	-	ATM_000040	-	-	DNA	SEQ-NG, z-score-CNV	29-oct-2018	Héritas	Panel Héritas (24 genes) APC,ATM,BMPR1A,BRCA1,BRCA2MBRIP1,CDH1,CDK4,CDKN2A,CHEK2,MLH1,MSH2,MSH6,MUTYH,PMS2,NBN,NF1,PALB2,PTEN,RAD51C,RAD51D,SMAD4,STK11,TP53,EPCAM	Multigenetic panel	-	Italian	-	-	-	1	Jesica Ramirez-Hospital Central de Mendoza
?/?	4	c.295A>G	p.(Ser99Gly)	Hetero	BRCA1	r.(?)	-	Unknown	g.108229287A>G	-	ATM_000036	-	-	DNA	SEQ-NG	12-nov-2018	Hospital Privado Centro Médico de Córdoba	Panel breast&, ovarian 24 genes (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, CDC73, DICER1, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53)	Multigenetic panel	Breast cancer	Unknown	-	-	Breast cancer, Ovarian cancer	1	Norma Rossi-Hospital de Córdoba
./-?	5	c.370A>G	p.(Ile124Val)	Hetero	no	r.(?)	-	Unknown	g.108235708A>G	-	ATM_000074	-	-	DNA	CNV, SEQ-NG	21-may-2020	IACA	Panel (ATM, BARD1, BRCA1/2, BRP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)	Multigenetic panel	-	Italian-Spanish	-	-	-	1	Silvina Sisterna-Hospital de Comunidad
+?/+	5	c.478_482del	p.(Ser160Alafs*23)	Hetero	POLG	r.(?)	-	Unknown	g.108235816_108235820del	-	ATM_000008	-	-	DNA	SEQ-NG	5-sep-2017	GENDA, Blueprint Genetics	Ataxia Panel Plus (141 genes)	Multigenetic panel	Breast cancer	Spanish	-	-	Breast cancer	1	Claudia Martin-Hospital de Córdoba
+/+	5	c.478_482del	p.(Ser160Alafs*23)	Hetero	N/A	r.(?)	-	Unknown	g.108235816_108235820del	-	ATM_000008	-	-	DNA	CNV, SEQ-NG	7-apr-2020	Color	(deriv. Genda) Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	-	French-Russian-Argentinian	-	(antec. ambos/explica cuadro)	-	1	Dolores Mansilla-Instituto Roffo
-/-?	5i	c.497-4delT	p.?	Hetero	BRCA1	r.spl?	-	Unknown	g.108243949delT	-	ATM_000001	-	-	DNA	SEQ-NG, z-score-CNV	23-may-2017	Héritas	Panel Héritas (12 genes)	-	-	Spanish	-	-	-	1	Alejandra Mampel-Hospital Universitario de Mendoza
-/-?	5i	c.497-4delT	p.?	Hetero	BRCA1	r.spl?	-	Unknown	g.108243949delT	-	ATM_000001	-	-	DNA	SEQ-NG, z-score-CNV	21-jul-2017	Héritas	-	Multigenetic panel	--	Caucasian	-	-	-	1	Gonzalo Tabares-CEMA
-/-?	5i	c.497-4delT	p.?	Hetero	no	r.spl?	-	Unknown	g.108243949delT	-	ATM_000001	-	-	DNA	SEQ-NG, z-score-CNV	19-jul-2017	Héritas	-	Multigenetic panel	--	Caucasian	-	-	-	1	Gonzalo Tabares-CEMA
-?/-?	5i	c.497-4delT	p.?	Hetero	no	r.spl?	-	Unknown	g.108243949delT	-	ATM_000001	-	-	DNA	SEQ-NG, z-score-CNV	10-ago-2017	Héritas	Panel Héritas (10 genes)	-	--	Italian-German	-	-	-	1	Gonzalo Tabares-CEMA
-/-?	5i	c.497-4delT	p.?	Hetero	no	r.spl?	-	Unknown	g.108243949del	-	ATM_000001	-	-	DNA	CNV, SEQ-NG	5-jul-2017	Héritas	-	Multigenetic panel	-	Argentinian	-	-	-	1	Laura Vargas Roig-IMBECU
?/?	6	c.572T>A	p.(Ile191Asn)	Hetero	no	r.(572u>a)	-	Unknown	g.108244028T>A	-	ATM_000108	-	-	DNA	SEQ-NG	31-may-2022	Genda/Color	Hereditary Cancer Test (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53	Multigenetic panel	Breast cancer	Bolivian	-	-	Breast cancer	1	Jesica Ramirez-Hospital Central de Mendoza
?/?	6	c.610G>A	p.(Gly204Arg)	Hetero	no	r.(?)	-	Unknown	g.108244066G>A	-	ATM_000065	-	-	DNA	CNV, SEQ-NG	2-jan-2020	Color (deriv. Genda)	Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	Breast cancer, Lung cancer	French-Basque	-	-	Pancreatic cancer	1	Silvina Sisterna-Hospital de Comunidad
?/?	6	c.610G>A	p.(Gly204Arg)	Hetero	no	r.(?)	-	Unknown	g.108244066G>A	-	ATM_000065	-	-	DNA	SEQ-NG	25-03-21	GENOS, COLOR	Hereditary Cancer Test (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53	Multigenetic panel	Breast cancer	Spanish - French	-	-	Breast cancer, Ovarian cancer	1	Laura Vargas Roig-IMBECU
?/?	7	c.680C>T	p.(Ser227Leu)	Hetero	no	r.(?)	-	Unknown	g.108244805C>T	-	ATM_000033	-	-	DNA	SEQ-NG	25-oct-2018	Hospital Privado Centro Médico de Córdoba	Panel breast&, ovarian 24 genes (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, CDC73, DICER1, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53)	Multigenetic panel	Breast cancer	Unknown	-	-	Breast cancer	1	Norma Rossi-Hospital de Córdoba
-/-?	7	c.735C>T	p.(=)	Hetero	no	r.(=)	-	Unknown	g.108244860C>T	-	ATM_000012	-	-	DNA	SEQ-NG, z-score-CNV	15-nov-2017	Héritas	Panel Héritas (24 genes) BRCA1-BRCA2-PTEN-TP53-ATM-CDH1-CHEK2-NBN-NF1-PALB2-STK11-BRIP1-RAD51C-RAD51D-MLH1-MSH2-MSH6-PMS2-APC-MUTYH-BMPR1A-SMAD4-CDKN2A-CDK4	-	-	Spanish	-	-	-	1	Alejandra Mampel-Hospital Universitario de Mendoza
-/-?	7	c.735C>T	p.(=)	Hetero	no	r.(=)	-	Unknown	g.108244860C>T	-	ATM_000012	-	-	DNA	SEQ-NG, z-score-CNV	12-dic-2017	Héritas	Panel Héritas (24 genes) BRCA1-BRCA2-PTEN-TP53-ATM-CDH1-CHEK2-NBN-NF1-PALB2-STK11-BRIP1-RAD51C-RAD51D-MLH1-MSH2-MSH6-PMS2-APC-MUTYH-BMPR1A-SMAD4-CDKN2A-CDK4	Multigenetic panel	-	Caucasian	-	-	-	1	Gonzalo Tabares-CEMA
./-?	7	c.735C>T	p.(=)	Not specified	no	r.(=)	-	Unknown	g.108244860C>T	-	ATM_000012	-	-	DNA	CNV, SEQ-NG	10-jan-2020	IACA	Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53)	Multigenetic panel	N/A	Spanish-Lebanese	-	-	Breast cancer, Pancreatic cancer	1	Silvina Sisterna-Hospital de Comunidad
-?/-	7	c.735C>T	p.(=)	Not specified	ATM	r.(=)	RECLASSIFIED NOVEMBER 2020	Unknown	g.108244860C>T	-	ATM_000012	-	-	DNA	CNV, SEQ-NG	27-dec-2019	IACA	-	Multigenetic panel	Breast cancer, Schwanoma	Italian	-	(antec ambos/explica cuadro)	Breast cancer, Melanoma	1	Silvina Sisterna-Hospital de Comunidad
+/+	7	c.790del	p.(Tyr264Ilefs*12)	Hetero	N/A	r.(790del)	-	Unknown	g.108244915del	-	ATM_000104	-	-	DNA	SEQ-NG	04-sep-2020	LACE	Panel Cáncer hereditario (30 genes) BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2, EPCAM, APC, MUTYH, MITF, BAP1, CDKN2A, CDK4, TP53, PTEN, STK11, CDH1, BMPR1A, SMAD4, GREM1, POLD1, POLE, PALB2, CHEK2, ATM, NBN, BARD1, BRIP1, RAD51C, RAD51D.	Multigenetic panel	--	Spanish/Italian	-	-	-	1	Norma Rossi - Instituto Zunino
+/+	7	c.790delT	p.(Tyr264Ilefs*12)	Hetero	FANCM	r.(?)	-	Unknown	g.108244915delT	-	ATM_000082	-	-	DNA	SEQ-NG	24-jan-2020	Hospital Privado Centro Médico de Córdoba	Panel (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, MLH1, MSH2, MSH6,MUTYH, NBN, NF1, PALB2, PMS2, POLE, POLD1, PTEN, RAD50, RAD51C, RAD51D, SDHB, SDHD, STK11,TP55	Multigenetic panel	Ovarian cancer	Italian	-	-	Breast cancer, Ovarian cancer	1	Norma Rossi-Hospital de Córdoba
+/+	7	c.875C>T	p.(Pro292Leu)	Hetero	N/A	r.(875c>u)	-	Unknown	g.108245000C>T	-	ATM_000110	-	-	DNA	SEQ	05-aug-2021	CEMIC	variante familiar c.152_191delinsCC p.(leu51Profs*18) Exon 1 gen MSH2, c.875C>, T p.(pro292Leu) exon 7 gen ATM	Known familial mutation	Bladder cancer	Spanish-Spanish	-	-	Bladder cancer, Breast cancer, Colon cancer, Lung cancer	1	Lina Nuñez-Private Practice
+/+	7	c.875C>T	p.(Pro292Leu)	Hetero	N/A	r.(875c>u)	-	Unknown	g.108245000C>T	-	ATM_000110	-	-	DNA	SEQ	18-aug-2021	CEMIC	Analisis germinal de la presencia de la variante genética somática: ATM (NM_000051.3 exon 7, c.875C>, T - p.(Pro292Leu)	Germline variant found in somatic testing	Breast cancer, Lung cancer	Spanish-Spanish	-	-	Bladder cancer, Breast cancer, Lung cancer, Lynch syndrome	1	Lina Nuñez-Private Practice
?/?	8	c.1010G>A	p.(Arg337His)	Hetero	no	r.(?)	-	Unknown	g.108247072G>A	-	ATM_000058	-	-	DNA	CNV, SEQ-NG	5-dec-2019	Hospital Privado Centro Médico de Córdoba	Panel breast-ovarian (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53)	Multigenetic panel	Breast cancer	Not available	-	-	Breast cancer	1	Claudia Martin-Hospital de Córdoba
?/?	8	c.1010G>A	p.(Arg337His)	Hetero	no	r.(?)	-	Unknown	g.108247072G>A	-	ATM_000058	-	-	DNA	CNV, SEQ-NG	10-mar-2020	Color	(deriv. Genos) Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	-	German-Spanish	-	-	-	1	Dolores Mansilla-Instituto Roffo
?/?	8	c.1010G>A	p.(Arg337His)	Hetero	no	r.(?)	-	Unknown	g.108247072G>A	-	ATM_000058	-	-	DNA	CNV, SEQ-NG	3-jan-2019	Color	(deriv. Genda) Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	-	Not available	-	-	-	1	Carolina Ponce-Instituto Fleming
?/?	8	c.1010G>A	p.(Arg337His)	Hetero	no	r.(?)	-	Unknown	g.108247072G>A	-	ATM_000058	-	-	DNA	SEQ-NG	25-03-21	GENOS, COLOR	Hereditary Cancer Test (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53	Multigenetic panel	Breast cancer	Spanish - French	-	-	Breast cancer, Ovarian cancer	1	Laura Vargas Roig-IMBECU
?/?	8	c.1010G>A	p.(Arg337His)	Hetero	MSH2	r.(?)	-	Unknown	g.108247072G>A	-	ATM_000058	-	-	DNA	SEQ-NG, CNV	06-07-23	CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS	Hereditary cancer panel (30 genes) APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FALTN12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53.	Multigenetic panel	Colon cancer	Paraguay - Italian	-	-	Colon cancer	1	Pablo Kalfayan-Hospital Italiano
-?/-?	8	c.1014T>C	p.(=)	Hetero	no	r.(=)	-	Unknown	g.108247076T>C	-	ATM_000100	-	-	DNA	SEQ-NG	14-dec-2020	Fares Taie	Panel (56 genes) APC, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, DICE1, FANCC, FANCM, FH, FLCN, GALNT12, HOXB13, KIT, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NYHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RINT1, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, VHL, XRCC2.	Multigenetic panel	-	Spanish;Italian	-	-	-	1	Silvina Sisterna-Hospital de Comunidad
+?/+?	8i	c.1065+1G>T	p.?	Hetero	no	r.spl?	-	Unknown	g.108247128G>C	-	ATM_000118	-	-	DNA	SEQ-NG	29-sep-2021	Genesia/Invitae	Panel (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLE, POLD1, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53.	Multigenetic panel	-	Romanian-Russian jew(Ashkenazi)-Italian	-	-	-	1	Pablo Kalfayan-Hospital Italiano
?/-?	8i	c.1066-6T>G	p.(=)	Hetero	no	r.(=)	RECLASSIFIED NOVEMBER 2020	Unknown	g.108248927T>G	-	ATM_000030	-	-	DNA	SEQ-NG	16-may-2018	Hospital Privado Centro Médico de Córdoba	Panel breast&, ovarian 24 genes (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, CDC73, DICER1, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53)	Multigenetic panel	-	Italian	-	-	-	1	Claudia Martin-Hospital de Córdoba
-/-?	8i	c.1066-6T>G	p.(=)	Hetero	no	r.(=)	-	Unknown	g.108248927T>G	-	ATM_000030	-	-	DNA	SEQ-NG	03-nov-2020	Hospital Privado Centro Médico de Córdoba	Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53	Multigenetic panel	-	Spanish	-	-	-	1	Claudia Martin-Hospital de Córdoba
+/+	11	c.1110C>G	p.(Tyr370*)	Hetero	N/A	r.(?)	-	Unknown	g.108248977C>G	-	ATM_000096	-	-	DNA	SEQ-NG	06-jul-2021	Invitae	Invitae Comphehensive carier screen	Multigenetic panel	-	Italian;Argentinian/Belgium: Italian	-	-	-	1	Pablo Kalfayan-Hospital Italiano
+/+	9	c.1110C>G	p.(Tyr370*)	Hetero	BRCA2	r.(1110c>g)	-	Unknown	g.108248977C>G	-	ATM_000096	-	-	DNA	SEQ-NG	03-jun-2022	Fares Taie	Panel (17 genes) ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6,PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53	Multigenetic panel	--	German/Italian	-	-	-	1	Silvina Sisterna-Hospital de Comunidad
+?/?	8	c.1229T>C	p.(Val410Ala)	Hetero	no	r.(?)	-	Unknown	g.108249096T>C	-	ATM_000083	-	-	DNA	SEQ-NG	06-nov-2020	IACA	Panel IACA (22 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, MRE11A, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53, VHL.	Multigenetic panel	Melanoma	Italian	-	-	Ovarian cancer	1	Silvina Sisterna-Hospital de Comunidad
-?/-	9i	c.1236-3del	p.?	Hetero	no	r.spl?	RECLASSIFIED JULY 2022	Unknown	g.108250698del	-	ATM_000120	-	-	DNA	SEQ-NG	14-aug-2017	Héritas	Panel Héritas (12 genes)	-	--	German-Argentinian	-	-	-	1	Laura Vargas Roig-IMBECU
-/-	9i	c.1236-3delT	p.?	Hetero	BRCA1	r.spl?	-	Unknown	g.108250698delT	-	ATM_000017	-	-	DNA	SEQ-NG, z-score-CNV	21-jul-2017	Héritas	-	Multigenetic panel	--	Caucasian	-	-	-	1	Gonzalo Tabares-CEMA
-/-	9i	c.1236-3dupT	p.?	Hetero	BRCA1	r.spl?	-	Unknown	g.108250698dupT	-	ATM_000003	-	-	DNA	SEQ-NG, z-score-CNV	23-may-2017	Héritas	Panel Héritas (12 genes)	-	-	Spanish	-	-	-	1	Alejandra Mampel-Hospital Universitario de Mendoza
-/-	9i	c.1236-3dupT	p.?	Hetero	BRCA1	r.spl?	-	Unknown	g.108250698dupT	-	ATM_000003	-	-	DNA	SEQ-NG, z-score-CNV	21-jul-2017	Héritas	-	Multigenetic panel	--	Caucasian	-	-	-	1	Gonzalo Tabares-CEMA
-/-	9i	c.1236-3dupT	p.?	Hetero	no	r.spl?	-	Unknown	g.108250698dupT	-	ATM_000003	-	-	DNA	SEQ-NG, z-score-CNV	19-jul-2017	Héritas	-	Multigenetic panel	--	Caucasian	-	-	-	1	Gonzalo Tabares-CEMA
-/-	9i	c.1236-3dupT	p.?	Hetero	no	r.spl?	-	Unknown	g.108250698dupT	-	ATM_000003	-	-	DNA	SEQ-NG, z-score-CNV	25-jul-2017	Héritas	-	Multigenetic panel	--	Caucasian	-	-	-	1	Gonzalo Tabares-CEMA
-/-	9i	c.1236-3dupT	p.?	Hetero	no	r.spl?	-	Unknown	g.108250698dupT	-	ATM_000003	-	-	DNA	SEQ-NG, z-score-CNV	10-ago-2017	Héritas	Panel Héritas (10 genes)	-	--	Italian-German	-	-	-	1	Gonzalo Tabares-CEMA
-/-	9i	c.1236-3dupT	p.?	Hetero	MLH1	r.spl?	-	Unknown	g.108250698dupT	-	ATM_000003	-	-	DNA	SEQ-NG, z-score-CNV	2-aug-2017	Héritas	Panel Héritas ovario(18 genes) ATM-BRIP-CDH1-CHEK2-DICER1-EPCAM-MLH1-MSH2-MSH6-MUTYH-NBN-PALB2-PMS2-PTEN-RAD51C-RAD51D-STK11-TP53	Multigenetic panel	--	Spanish-Italian	-	-	-	1	Gonzalo Tabares-CEMA
-/-	9i	c.1236-3dupT	p.?	Hetero	no	r.spl?	-	Unknown	g.108250698dupT	-	ATM_000003	-	-	DNA	SEQ-NG	19-jul-2017	Héritas	Panel Héritas (12 genes)	-	--	Spanish	-	-	-	1	Laura Vargas Roig-IMBECU
-/-	9i	c.1236-3dupT	p.?	Hetero	no	r.spl?	-	Unknown	g.108250698dupT	-	ATM_000003	-	-	DNA	CNV, SEQ-NG	5-jul-2017	Héritas	-	Multigenetic panel	-	Argentinian	-	-	-	1	Laura Vargas Roig-IMBECU
-?/-	9i	c.1236-3dupT	p.?	Hetero	no	r.spl?	-	Unknown	g.108250698dupT	-	ATM_000003	-	-	DNA	SEQ-NG	22-nov-2019	Biogenotec	Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51D, RAD51D, SMAD4, STK11, TP53, EPCAM)	Multigenetic panel	-	Unknown	-	-	-	1	Laura Vargas Roig-IMBECU
?/?	10	c.1351C>T	p.(Arg451Cys)	Hetero	ATM	r.(?)	-	Unknown	g.108250816C>T	-	ATM_000054	-	-	DNA	SEQ-NG, CNV	15-oct-2019	Genesia - Progenitest, INVITAE	Invitae Multi-Cancer Panel (84 genes)	Multigenetic panel	Breast cancer	Bolivian	-	(antec ambos/explica cuadro)	Breast cancer	1	Jesica Ramirez-Hospital Central de Mendoza
?/?	10	c.1373G>A	p.(Cys458Tyr)	Hetero	no	r.(?)	-	Unknown	g.108250838G>A	-	ATM_000089	-	-	DNA	SEQ-NG	23-dec-2019	Hospital Privado Centro Médico de Córdoba	Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP56	Multigenetic panel	--	Spanish; Spanish	-	-	-	1	Cecilia Montes-IMGO
?/?	10	c.1464G>T	p.(Trp488Cys)	Hetero	no	r.(?)	-	Unknown	g.108250929G>T	-	ATM_000059	-	-	DNA	CNV, SEQ-NG	5-dec-2019	Hospital Privado Centro Médico de Córdoba	Panel breast-ovarian (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53)	Multigenetic panel	Breast cancer	Not available	-	-	Breast cancer	1	Claudia Martin-Hospital de Córdoba
?/?	10	c.1516G>T	p.(Gly506Cys)	Hetero	no	r.(?)	-	Unknown	g.108250981G>T	-	ATM_000023	-	-	DNA	SEQ-NG	14-aug-2017	Héritas	Panel Héritas (12 genes)	-	--	German-Argentinian	-	-	-	1	Laura Vargas Roig-IMBECU
?/?	10	c.1516G>T	p.(Gly506Cys)	Hetero	no	r.(?)	-	Unknown	g.108250981G>T	-	ATM_000023	-	-	DNA	CNV, SEQ-NG	15-apr-2019	IACA	-	Multigenetic panel	Breast cancer	Spanish-Italian-French	-	-	Breast cancer	1	Silvina Sisterna-Hospital de Comunidad
?/?	10	c.1516G>T	p.(Gly506Cys)	Hetero	no	r.(?)	-	Unknown	g.108250981G>T	-	ATM_000023	-	-	DNA	SEQ-NG	16-jan-2024	COLOR	Hereditary Cancer Genetic Test APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53	Multigenetic panel	Breast cancer	Spanish - Italian	-	-	Breast cancer	1	Instituto Nacional del Cancer
?/-?	10	c.1541G>A	p.(Gly514Asp)	Hetero	no	r.(?)	-	Unknown	g.108251006G>A	-	ATM_000080	-	-	DNA	CNV, SEQ-NG	21-may-2019	Hospital Privado Centro Médico de Córdoba	Panel breast-ovarian (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53)	Multigenetic panel	-	Russian-German-Spanish-French	-	-	-	1	Norma Rossi-Hospital de Córdoba
?/?	10	c.1595G>A	p.(Cys532Tyr)	Hetero	no	r.(?)	-	Unknown	g.108251060G>A	-	ATM_000014	-	-	DNA	SEQ-NG, z-score-CNV	12-dic-2017	Héritas	Panel Héritas (24 genes) BRCA1-BRCA2-PTEN-TP53-ATM-CDH1-CHEK2-NBN-NF1-PALB2-STK11-BRIP1-RAD51C-RAD51D-MLH1-MSH2-MSH6-PMS2-APC-MUTYH-BMPR1A-SMAD4-CDKN2A-CDK4	Multigenetic panel	-	Caucasian	-	-	-	1	Gonzalo Tabares-CEMA
+/+	10i	c.1607+1G>T	p.(?)	Hetero	N/A	r.(?)	-	Unknown	g.108251073G>T	-	ATM_000126	-	-	DNA	SEQ-NG	23-01-23	Dasa Genómica - Genia	hereditary cancer panel (145 genes)	Multigenetic panel	Breast cancer	Polish/Ukranian – Italian	-	-	Breast cancer, Colorectal cancer, Pancreatic cancer	1	Pablo Kalfayan-Hospital Italiano
-?/-?	11	c.1636C>G	p.(Leu546Val)	Hetero	no	r.(?)	-	Unknown	g.108251865C>G	-	ATM_000044	-	-	DNA	SEQ-NG	16-may-2018	Héritas	Panel Héritas (25 genes) APC,ATM,BMPR1A,BRCA1,BRCA2,BRIP1,CDH1,CDK4,CDKN2A,CHEK2,MLH1,MSH2,MSH6,MUTYH,NBN,NF1,PALB2,PTEN,RAD51C,RAD51D,SMAD4,STK11,TP53,EPCAM	Multigenetic panel	--	Uruguayan	-	-	-	1	Laura Vargas Roig-IMBECU
?/?	11	c.1703G>T	p.(Arg568Ile)	Hetero	no	r.(?)	-	Unknown	g.108251932G>T	-	ATM_000066	-	-	DNA	CNV, SEQ-NG	23-jun-2019	Color (deriv. Genda)	Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	Breast cancer	Italian	-	-	Breast cancer	1	Jesica Ramirez-Hospital Central de Mendoza
-?/-?	12	c.1810C>T	p.(Pro604Ser)	Hetero	no	r.(?)	-	Unknown	g.108252824C>T	-	ATM_000028	-	-	DNA	SEQ-NG	21-may-2018	CEMIC	-	Multigenetic panel	Breast cancer	Russian-Ashkenazi	-	-	Breast cancer, Endometrial cancer, Parotid cancer	1	Lina Nuñez-Private Practice
-?/-?	12	c.1810C>T	p.(Pro604Ser)	Hetero	no	r.(?)	-	Unknown	g.108252824C>T	-	ATM_000028	-	-	DNA	SEQ-NG, z-score-CNV	29-oct-2018	Héritas	Panel Héritas (24 genes) APC,ATM,BMPR1A,BRCA1,BRCA2MBRIP1,CDH1,CDK4,CDKN2A,CHEK2,MLH1,MSH2,MSH6,MUTYH,PMS2,NBN,NF1,PALB2,PTEN,RAD51C,RAD51D,SMAD4,STK11,TP53,EPCAM	Multigenetic panel	-	Italian	-	-	-	1	Jesica Ramirez-Hospital Central de Mendoza
-?/-?	12	c.1810C>T	p.(Pro604Ser)	Hetero	no	r.(?)	-	Unknown	g.108252824C>T	-	ATM_000028	-	-	DNA	CNV, SEQ-NG	9-dec-2019	IACA	-	Multigenetic panel	Breast cancer	Italian-Spanish	-	-	Breast cancer	1	Silvina Sisterna-Hospital de Comunidad
-/-	12	c.1810C>T	p.(Pro604Ser)	Hetero	no	r.(?)	-	Unknown	g.108252824C>T	-	ATM_000028	-	-	DNA	SEQ-NG	28-dec-2020	Hospital Privado Centro Médico de Córdoba	Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP54	Multigenetic panel	Breast cancer	Italian; Italian	-	-	Breast cancer	1	Claudia Martin-Hospital de Córdoba
?/-	12	c.1810C>T	p.(Pro604Ser)	Hetero	BRCA2	r.(?)	-	Unknown	g.108252824C>T	-	ATM_000028	-	-	DNA	SEQ-NG	27-jul-2021	Hospital Privado Centro Médico de Córdoba	Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP54	Multigenetic panel	Breast cancer	Italian	-	-	Breast cancer, Colon cancer, Ovarian cancer	1	Claudia Martin-Hospital de Córdoba
?/?	13	c.1899T>G	p.(Cys633Trp)	Hetero	no	r.(?)	-	Unknown	g.108253814T>G	-	ATM_000027	-	-	DNA	SEQ-NG	27-aug-2018	GENDA, COLOR	Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	-	Spanish-Italian	-	-	-	1	Maria Laura Gonzalez-Hospital Italiano
?/?	13	c.1899T>G	p.(Cys633Trp)	Hetero	TP53	r.(?)	-	Unknown	g.108253814T>G	-	ATM_000027	-	-	DNA	SEQ-NG	12-oct-2021	Hospital Privado Centro Médico de Córdoba	Panel Cancer Hereditario (30 genes) ATM BARD1 BRCA1 BRCA2 BRIP1 CDC73 CDH1 CHECK2 DICER1 EPCAM FANCC FANCM MLH1 MSH2 MSH6 MUTYH NBN NF1 NF2 PALB2 PMS2 POLD1 PTEN RAD50 RAD51C RAD51D SDHB SDHD STK11 TP53	Multigenetic panel	Breast cancer	Argentinian	-	-	Breast cancer	1	Claudia Martin-Hospital de Córdoba
?/?	13	c.1899T>G	p.(Cys633Trp)	Hetero	no	r.(1899u>g)	-	Unknown	g.108253814T>G	-	ATM_000027	-	-	DNA	SEQ-NG	21-dec-2021	Hospital Privado Centro Médico de Córdoba	PANEL CÁNCER MAMA-OVARIO (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53	Multigenetic panel	--	Native argentinian	-	-	-	1	Virginia Miretti-Hospital de Córdoba
+/+	13	c.1920_1923del	p.(Glu641Asnfs*7)	Hetero	N/A	r.(?)	-	Unknown	g.108253835_108253838del	-	ATM_000052	-	-	DNA	CNV, SEQ-NG	27-dec-2019	IACA	-	Multigenetic panel	Breast cancer, Schwanoma	Italian	-	(antec ambos/explica cuadro)	Breast cancer, Melanoma	1	Silvina Sisterna-Hospital de Comunidad
./-?	13	c.1986T>C	p.(=)	Not specified	ATM	r.(=)	-	Unknown	g.108253901T>C	-	ATM_000064	-	-	DNA	CNV, SEQ-NG	4-oct-2019	IACA	-	Multigenetic panel	Breast cancer	Spanish-Italian-Argentinian	-	(antec personales/explica cuadro)	Breast cancer	1	Silvina Sisterna-Hospital de Comunidad
-/-?	13	c.2119T>C	p.(Ser707Pro)	Hetero	no	r.(?)	-	Unknown	g.108254034T>C	-	ATM_000078	-	-	DNA	SEQ-NG	10-oct-2019	Domeq&, Lafage	-	Multigenetic panel	-	Caucasian	-	-	-	1	Erika Stegmayer-CIOC
?/-	13	c.2119T>C	p.(Ser707Pro)	Hetero	no	r.(?)	-	Unknown	g.108254034T>C	-	ATM_000078	-	-	DNA	SEQ-NG	24-aug-2021	Hospital Privado Centro Médico de Córdoba	Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53	Multigenetic panel	-	Unknown	-	-	-	1	Claudia Martin-Hospital de Córdoba
?/-?	13	c.2119T>C	p.(Ser707Pro)	Hetero	CHEK2;PALB2	r.(2119u>c)	-	Unknown	g.108254034T>C	-	ATM_000078	-	-	DNA	SEQ-NG	05-may-2022	Hospital Privado Centro Médico de Córdoba	Panel Cancer mama-Ovario (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53	Multigenetic panel	--	Native argentinian	-	-	-	1	Claudia Martin-Hospital de Córdoba
-?/-?	14	c.2193C>T	p.(=)	Hetero	no	r.(=)	-	Unknown	g.108256283C>T	-	ATM_000045	-	-	DNA	SEQ-NG	16-may-2018	Héritas	Panel Héritas (25 genes) APC,ATM,BMPR1A,BRCA1,BRCA2,BRIP1,CDH1,CDK4,CDKN2A,CHEK2,MLH1,MSH2,MSH6,MUTYH,NBN,NF1,PALB2,PTEN,RAD51C,RAD51D,SMAD4,STK11,TP53,EPCAM	Multigenetic panel	--	Uruguayan	-	-	-	1	Laura Vargas Roig-IMBECU
+/+	14	c.2239C>T	p.(Gln747*)	Hetero	N/A	r.(?)	-	Unknown	g.108256329C>T	-	ATM_000095	-	-	DNA	SEQ-NG	01-sep-2021	Genia/Invitae	Panel cancer mama (12 genes) ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, STK11, TP53	Multigenetic panel	-	Italian; Spanish	-	-	-	1	Pablo Kalfayan-Hospital Italiano
?/+?	14	c.2250G>T	p.(Lys750Asn)	Hetero	ATM	r.(?)	RECLASSIFIED NOVEMBER 2020	Unknown	g.108256340G>T	-	ATM_000009	-	-	DNA	SEQ-NG	5-sep-2017	GENDA, Blueprint Genetics	Ataxia Panel Plus (141 genes)	Multigenetic panel	Breast cancer	Spanish	-	-	Breast cancer	1	Claudia Martin-Hospital de Córdoba
+/+?	14i	c.2250+1G>A	p.?	Hetero	N/A	r.spl?	-	Unknown	g.108256341G>A	-	ATM_000051	-	-	DNA	CNV, SEQ-NG	4-oct-2019	IACA	-	Multigenetic panel	Breast cancer	Spanish-Italian-Argentinian	-	(antec personales/explica cuadro)	Breast cancer	1	Silvina Sisterna-Hospital de Comunidad
?/?	15	c.2408T>C	p.(Phe803Ser)	Hetero	no	r.(?)	-	Unknown	g.108259017T>C	-	ATM_000087	-	-	DNA	SEQ-NG	22-feb-2021	Genia	Panel invitae Colorectal Hereditario (30 genes)	Multigenetic panel	--	Spanish; Spanish	-	-	-	1	Maria Laura Gonzalez-Hospital Italiano
-/?	17	c.2572T>C	p.(Phe858Leu)	Hetero	no	r.(?)	-	Unknown	g.108267276T>C	-	ATM_000019	-	-	DNA	SEQ-NG, z-score-CNV	25-jul-2017	Héritas	-	Multigenetic panel	--	Caucasian	-	-	-	1	Gonzalo Tabares-CEMA
-?/-?	17	c.2572T>C	p.(Phe858Leu)	Hetero	no	r.(?)	RECLASSIFIED JUNE 2019	Unknown	g.108267276T>C	-	ATM_000019	-	-	DNA	SEQ-NG	19-jul-2017	Héritas	Panel Héritas (12 genes)	-	--	Spanish	-	-	-	1	Laura Vargas Roig-IMBECU
?/-?	17	c.2572T>C	p.(Phe858Leu)	Hetero	no	r.(?)	-	Unknown	g.108267276T>C	-	ATM_000019	-	-	DNA	CNV, SEQ-NG	15-oct-2019	Hospital Privado Centro Médico de Córdoba	Panel breast-ovarian (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53)	Multigenetic panel	-	Argentinian	-	-	-	1	Claudia Martin-Hospital de Córdoba
-?/-?	17	c.2572T>C	p.(Phe858Leu)	Not specified	no	r.(?)	-	Unknown	g.108267276T>C	-	ATM_000019	-	-	DNA	CNV, SEQ-NG	24-sep-2019	IACA	-	Multigenetic panel	-	Italian-Spanish	-	-	-	1	Silvina Sisterna-Hospital de Comunidad
?/-?	17	c.2572T>C	p.(Phe858Leu)	Hetero	no	r.(?)	-	Unknown	g.108267276T>C	-	ATM_000019	-	-	DNA	CNV, SEQ-NG	24-jan-2020	Hospital Privado Centro Médico de Córdoba	Panel breast-ovarian (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53)	Multigenetic panel	-	Italian-Spanish	-	-	-	1	Claudia Martin-Hospital de Córdoba
?/-	17	c.2572T>C	p.(Phe858Leu)	Hetero	no	r.(?)	RECLASSIFIED JULY 2022	Unknown	g.108267276T>C	-	ATM_000019	-	-	DNA	SEQ-NG	22-feb-2021	Hospital Privado Centro Médico de Córdoba	Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53	Multigenetic panel	--	Argentinian	-	-	-	1	Virginia Miretti-Hospital de Córdoba
-?/-?	17	c.2614C>T	p.(Pro872Ser)	Hetero	no	r.(?)	-	Unknown	g.108267318C>T	-	ATM_000046	-	-	DNA	SEQ-NG	16-may-2018	Héritas	Panel Héritas (25 genes) APC,ATM,BMPR1A,BRCA1,BRCA2,BRIP1,CDH1,CDK4,CDKN2A,CHEK2,MLH1,MSH2,MSH6,MUTYH,NBN,NF1,PALB2,PTEN,RAD51C,RAD51D,SMAD4,STK11,TP53,EPCAM	Multigenetic panel	--	Uruguayan	-	-	-	1	Laura Vargas Roig-IMBECU
?/?	18	c.2650C>T	p.(Pro884Ser)	Hetero	no	r.(?)	-	Unknown	g.108268421C>T	-	ATM_000088	-	-	DNA	SEQ-NG	28-dec-2020	Hospital Privado Centro Médico de Córdoba	Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP54	Multigenetic panel	Breast cancer	Italian; Italian	-	-	Breast cancer	1	Claudia Martin-Hospital de Córdoba
?/?	18	c.2683C>A	p.(Leu895Ile)	Hetero	no	r.(?)	-	Unknown	g.108268454C>A	-	ATM_000068	-	-	DNA	SEQ-NG	9-sep-2019	CEMIC	-	Multigenetic panel	-	Spanish	-	-	-	1	Dolores Mansilla-Instituto Roffo
-?/-	18	c.2685A>G	p.(=)	Hetero	no	r.(=)	RECLASSIFIED NOVEMBER 2020	Unknown	g.108268456A>G	-	ATM_000047	-	-	DNA	SEQ-NG	16-may-2018	Héritas	Panel Héritas (25 genes) APC,ATM,BMPR1A,BRCA1,BRCA2,BRIP1,CDH1,CDK4,CDKN2A,CHEK2,MLH1,MSH2,MSH6,MUTYH,NBN,NF1,PALB2,PTEN,RAD51C,RAD51D,SMAD4,STK11,TP53,EPCAM	Multigenetic panel	--	Uruguayan	-	-	-	1	Laura Vargas Roig-IMBECU
?/?	15	c.2770C>T	p.(Arg924Trp)	Hetero	no	r.(?)	-	Unknown	g.108268541C>T	-	ATM_000084	-	-	DNA	SEQ-NG	05-nov-2020	Fares Taie	Panel (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, NYHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53.	Multigenetic panel	Breast cancer	Spanish-Italian	-	-	Breast cancer	1	Silvina Sisterna-Hospital de Comunidad
+/+	19i	c.2921+1G>T	p.?	Hetero	N/A	r.?	-	Unknown	g.108271147G>T	-	ATM_000122	rs587781558	-	DNA	SEQ-NG	03-sep-2022	Fares Taie	Panel Cancer mama-ovario (12 genes) ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53.	Multigenetic panel	Breast cancer	Italian	-	-	Breast cancer	1	Silvina Sisterna-Hospital de Comunidad
-/-	19i	c.2922-8del	p.(=)	Hetero	no	r.(=)	RECLASSIFIED JULY 2022	Unknown	g.108271243del	-	ATM_000121	-	-	DNA	CNV, SEQ-NG	5-jul-2017	Héritas	-	Multigenetic panel	-	Argentinian	-	-	-	1	Laura Vargas Roig-IMBECU
-/-?	19i	c.2922-8delT	p.(=)	Hetero	BRCA1	r.(=)	-	Unknown	g.108271243delT	-	ATM_000002	-	-	DNA	SEQ-NG, z-score-CNV	23-may-2017	Héritas	Panel Héritas (12 genes)	-	-	Spanish	-	-	-	1	Alejandra Mampel-Hospital Universitario de Mendoza
-/-?	19i	c.2922-8delT	p.(=)	Hetero	BRCA1	r.(=)	-	Unknown	g.108271243delT	-	ATM_000002	-	-	DNA	SEQ-NG, z-score-CNV	21-jul-2017	Héritas	-	Multigenetic panel	--	Caucasian	-	-	-	1	Gonzalo Tabares-CEMA
-/-?	19i	c.2922-8delT	p.(=)	Hetero	no	r.(=)	-	Unknown	g.108271243delT	-	ATM_000002	-	-	DNA	SEQ-NG, z-score-CNV	19-jul-2017	Héritas	-	Multigenetic panel	--	Caucasian	-	-	-	1	Gonzalo Tabares-CEMA
-/-?	19i	c.2922-8delT	p.(=)	Hetero	no	r.(=)	-	Unknown	g.108271243delT	-	ATM_000002	-	-	DNA	SEQ-NG, z-score-CNV	25-jul-2017	Héritas	-	Multigenetic panel	--	Caucasian	-	-	-	1	Gonzalo Tabares-CEMA
-/-?	19i	c.2922-8delT	p.(=)	Hetero	no	r.(=)	-	Unknown	g.108271243delT	-	ATM_000002	-	-	DNA	SEQ-NG, z-score-CNV	10-ago-2017	Héritas	Panel Héritas (10 genes)	-	--	Italian-German	-	-	-	1	Gonzalo Tabares-CEMA
./-?	19i	c.2922-8delT	p.(=)	Hetero	no	r.(=)	-	Unknown	g.108271243delT	-	ATM_000002	-	-	DNA	SEQ-NG	19-jul-2017	Héritas	Panel Héritas (12 genes)	-	--	Spanish	-	-	-	1	Laura Vargas Roig-IMBECU
-/-?	19i	c.2922-8delT	p.(=)	Hetero	no	r.(=)	-	Unknown	g.108271243delT	-	ATM_000002	-	-	DNA	SEQ-NG	14-aug-2017	Héritas	Panel Héritas (12 genes)	-	--	German-Argentinian	-	-	-	1	Laura Vargas Roig-IMBECU
-/?	20	c.2932T>C	p.(Ser978Pro)	Hetero	no	r.(?)	-	Unknown	g.108271261T>C	-	ATM_000010	-	-	DNA	SEQ-NG, z-score-CNV	13-oct-2016	Héritas	Panel Héritas (12 genes)	-	-	Caucasian-Spanish	-	-	-	1	Laura Vargas Roig-IMBECU

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ATM (ATM serine/threonine kinase)