Full data view for gene CHEK2

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
x

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.

52 entries on 1 page. Showing entries 1 - 52.

Legend

How to query

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
+/+	1-15	deletion of exons 1-15	.	Hetero	N/A	.	https://www.ncbi.nlm.nih.gov/clinvar/RCV000197635/	Unknown	g.(?_28687743)_(28741834_?)del	-	CHEK2_000003	-	-	DNA	SEQ-NG, z-score-CNV	24-oct-2017, 28-mar-2018	GENDA, COLOR, Héritas	Hereditary Cancer Risk Test (30 genes),	Multigenetic panel	Breast cancer	Spanish-Irish-French-Argentinian	-	-	Breast cancer, Prostate cancer	1	Lina Nuñez-Private Practice
?/?	2	c.7C>T	p.(Arg3Trp)	Hetero	no	r.(?)	-	Unknown	g.28734715G>A	-	CHEK2_000025	-	-	DNA	SEQ-NG, CNV	29-jul-2019	GENOS, COLOR	Hereditary Cancer Risk Test (30 Genes)	Multigenetic panel	Glioblastoma, Hodgkin lymphoma, Melanoma, Skin cancer	Polish-Ucranian	-	CIA (antec ambos/NO explica cuadro)	Glioblastoma Multiform, Melanoma	1	Lina Nuñez-Hospital Alemán
?/?	2	c.46A>C	p.(Ser16Arg)	Hetero	no	r.(?)	-	Unknown	g.28734676T>G	-	CHEK2_000030	-	-	DNA	CNV, SEQ-NG	4-apr-2019	Color (deriv. Genda)	Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	Breast cancer	Spanish	-	-	Breast cancer	1	Jesica Ramirez-Hospital Central de Mendoza
?/?	2	c.80A>C	p.(Gln27Pro)	Hetero	no	r.(?)	-	Unknown	g.28734642T>G	-	CHEK2_000017	-	-	DNA	SEQ-NG	1-aug-2018	GENDA, COLOR	Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	Breast cancer, Gliosarcoma	French-Basque-German-Turkish	-	-	Breast cancer, Gliosarcoma	1	Lina Nuñez-Private Practice
?/?	2	c.190G>A	p.(Glu64Lys)	Hetero	no	r.(?)	-	Unknown	g.28734532C>T	-	CHEK2_000028	-	-	DNA	CNV, SEQ-NG	3-mar-2020	Color	(deriv. Genda) Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	Breast cancer	Italian-Argentinian	-	(antec. ambos/explicaría cuadro)	Breast cancer	1	Lina Nuñez-Private Practice
-?/-?	2	c.252A>G	p.(=)	Hetero	no	r.(=)	-	Unknown	g.28734470T>C	-	CHEK2_000021	-	-	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
-?/-	2	c.252A>G	p.(=)	Hetero	no	r.(=)	RECLASSIFIED NOVEMBER 2020	Unknown	g.28734470T>C	-	CHEK2_000021	-	-	DNA	CNV, SEQ-NG	26-feb-2020	IACA	Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)	Multigenetic panel	Breast cancer	Italian	-	-	Breast cancer	1	Silvina Sisterna-Hospital de Comunidad
+/+	2	c.283C>T	p.(Arg95*)	Hetero	N/A	r.(?)	-	Unknown	g.28734439G>A	-	CHEK2_000026	-	-	DNA	SEQ-NG, CNV	7-oct-2019	GENOS, COLOR	Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	-	Italian	-	CIA (antec ambos/explica cuadro)	-	1	Pablo Kalfayan-Hospital Italiano
./-?	2i	c.319+379A>G	p.(=)	Hetero	no	r.(=)	-	Unknown	g.28734024T>C	-	CHEK2_000007	-	-	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
./-?	2i	c.319+379A>G	p.(=)	Homo	no	r.(=)	-	Unknown	g.28734024T>C	-	CHEK2_000007	-	-	DNA	CNV, SEQ-NG	4-may-2020	IACA	Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)	Multigenetic panel	-	Italian-Spanis-Ashkenazi	-	-	-	1	Silvina Sisterna-Hospital de Comunidad
./-?	2i	c.319+379A>G	p.(=)	Hetero	no	r.(=)	-	Unknown	g.28734024T>C	-	CHEK2_000007	-	-	DNA	CNV, SEQ-NG	15-jul-2020	IACA	Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)	Multigenetic panel	-	Italian	-	-	-	1	Silvina Sisterna-Hospital de Comunidad
./-?	2i	c.319+379A>G	p.(=)	Hetero	BRCA2	r.(=)	-	Unknown	g.28734024T>C	-	CHEK2_000007	-	-	DNA	CNV, SEQ-NG	13-may-2020	IACA	Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53)	Multigenetic panel	Breast cancer	Brazilian-Italian-German	-	(antec. ambos/explica cuadro)	Breast cancer	1	Silvina Sisterna-Hospital de Comunidad
+/+?	3	c.349A>G	p.(Arg117Gly)	Hetero	N/A	r.(?)	-	Unknown	g.28725338T>C	-	CHEK2_000022	-	-	DNA	SEQ-NG	24-apr-2019	CEMIC	-	Multigenetic panel	-	Brazilian	-	CIA (explica cuadro/antec personales)	-	1	Dolores Mansilla-Instituto Roffo
+?/+?	3	c.349A>G	p.(Arg117Gly)	Hetero	N/A	r.(?)	-	Unknown	g.28725338T>C	-	CHEK2_000022	-	-	DNA	CNV, SEQ-NG	18-mar-2020	Color	(deriv LACE) Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	Breast cancer	Spanish-Italian-Argentinian	-	(explica cuadro/antec ambos)	Breast cancer, Colon cancer, Testicular cancer	1	Claudia Martin-Hospital de Córdoba
+?/+?	3	c.349A>G	p.(Arg117Gly)	Hetero	no	r.(349a>g)	-	Unknown	g.28725338T>C	-	CHEK2_000022	-	-	DNA	SEQ-NG	25-jun-2021	Hospital Universitario Austral	Panel (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	--	Italian	-	-	-	1	Maria Constanza Vallone-Hospital Austral
+?/+?	3	c.433C>T	p.(Arg145Trp)	Hetero	N/A	r.(?)	-	Unknown	g.28725254G>A	-	CHEK2_000009	-	-	DNA	SEQ-NG, z-score-CNV	9-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	Multigenetic panel	-	Caucasian	-	-	-	1	Gonzalo Tabares-CEMA
+/+?	4	c.470T>C	p.(Ile157Thr)	Hetero	no	r.(470u>c)	-	Unknown	g.28725099A>G	-	CHEK2_000045	-	-	DNA	SEQ-NG	01-jun-2022	Genia/Invitae	Panel (18 genes) APC, AXIN2, BMPR1A, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN*, SMAD4, STK11, TP53	Multigenetic panel	--	Italian/Italian-Argentinean	-	-	-	1	Pablo Kalfayan - Consultorio Particular.
+/.	4	c.470T>C	p.(Ile157Thr)	Hetero	N/A	r.(470u>c)	-	Unknown	g.28725099A>G	-	CHEK2_000045	-	-	DNA	SEQ-NG	11-10-22	Genia/Invitae	Invitae Panel Breast and gynecologic cancer/15 individual genes (35) (ATM, BAP1, BARD1, BRCA1, BRCA2, BRIP1,CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, DICER1, EPCAM, FH, FLCN, HOXB13, MET, MITF, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, SDHB, SDHD, SMARCA4, STK11, TP53, TSC1, TSC2, VHL)	Multigenetic panel	Kidney cancer	Slovak	-	-	Kidney cancer	1	Pablo Kalfayan-Hospital Italiano
+?/+?	4	c.499G>A	p.(Gly167Arg)	Hetero	no	r.(?)	-	Unknown	g.28725070C>T	-	CHEK2_000033	-	-	DNA	CNV, SEQ-NG	17-feb-2020	Color	(deriv. Genda) Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	-	Not available	-	-	-	1	Dolores Mansilla-Instituto Roffo
+?/+?	4	c.499G>A	p.(Gly167Arg)	Hetero	no	r.(?)	-	Unknown	g.28725070C>T	-	CHEK2_000033	-	-	DNA	SEQ-NG	06-jun-2021	Genda	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	-	Spanish; Italian	-	-	-	1	Pablo Kalfayan-Hospital Italiano
?/?	4	c.549G>C	p.(Leu183Phe)	Hetero	no	r.(?)	-	Unknown	g.28725020C>G	-	CHEK2_000004	-	-	DNA	SEQ-NG, CNV	11-jun-2017	Dasa Genómica - Genia, INVITAE	49 genes (Invitae Common Hereditary Cancers Panel Breast-Gyn-GI &, 7 individual genes)	Multigenetic panel	-	Spanish-Italian	-	-	-	1	Alvaro Yanzi-Instituto San Marcos
?/?	4	c.580A>C	p.(Ser194Arg)	Hetero	no	r.(?)	RECLASSIFIED MARCH 2018	Unknown	g.28724989T>G	-	CHEK2_000011	-	-	DNA	CNV	1-oct-2017	Genesia - Progenitest, COLOR	Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	-	Spanish-Italian	-	-	-	1	Vanesa Lotersztein-Genesia/Progenitest
?/?	4i	c.592+3A>T	p.?	Hetero	no	r.spl?	-	Unknown	g.28724974T>A	-	CHEK2_000014	-	-	DNA	SEQ-NG	18-sep-2018	GENDA, COLOR	COLOR Hereditary Cancer Test (30 Genes)	Multigenetic panel	Breast cancer, Thyroid cancer	Spanish-Italian	-	-	Breast cancer, Thyroid cancer	1	Lina Nuñez-Hospital Alemán
+?/?	4i	c.592+3A>T	p.?	Hetero	no	r.spl?	-	Unknown	g.28724974T>A	-	CHEK2_000014	-	-	DNA	SEQ-NG	18-jan-2022	Genesia - Progenitest, Instituto Alexander Fleming, INVITAE	Panel (15 genes) ATM, BRCA1, BRCA2, CDH1, CHEK2, LZTR1, MEN1, NBN, NF1, NF2, PALB2, PTEN, SMARCB1, STK11, TP53.	Multigenetic panel	--	Italians-Catalans/Armenians	-	-	-	1	Pablo Kalfayan-Hospital Italiano
+/+	4i-5i	c.592+3A>T	p.?	Hetero	N/A	r.spl?	-	Unknown	g.28724974T>A	-	CHEK2_000014	-	-	DNA	SEQ	16-09-22	IACA	-	Known familial mutation	N/A	Spanish/Italian	-	-	CHEK2-associated syndrome	1	Silvina Sisterna-Hospital de Comunidad
?/?	4	c.663C>G	p.(Ile221Met)	Hetero	no	r.(?)	-	Unknown	g.28719415G>C	-	CHEK2_000010	-	-	DNA	SEQ-NG	29-nov-2017	STEM	-	Multigenetic panel	-	French-Spanish	-	-	-	1	Gonzalo Tabares-CEMA
+/+	7	c.793-1G>A	p.(?)	Hetero	N/A	r.(?)	-	Unknown	g.28710060C>A	-	CHEK2_000049	-	-	DNA	SEQ-NG	03-jan-2022	Genesia/Invitae	Panel Invitae Multi-Cancer (84 genes)	Multigenetic panel	Breast cancer	Italian- Italian/German	-	-	Breast cancer, Kidney cancer, Endometrial cancer	1	Lina Nuñez-Private Practice
+/+	6i	c.793-1G>A	p.?	Hetero	N/A	r.spl?	-	Unknown	g.28710060C>T	-	CHEK2_000049	-	-	DNA	SEQ-NG	27-12-22	IACA	PANEL (22 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53.	Multigenetic panel	Breast cancer	Spanish	-	-	Breast cancer	1	Silvina Sisterna-Hospital de Comunidad
?/?	5	c.949A>G	p.(Lys317Glu)	Hetero	no	r.(?)	-	Unknown	g.28699897T>C	-	CHEK2_000032	-	-	DNA	CNV, SEQ-NG	24-aug-2019	Invitae (deriv. Genesia)	Invitae Multi-Cancer Panel (84 genes)	Multigenetic panel	Colon cancer	Italian	-	-	Colon cancer	1	Jesica Ramirez-Hospital Central de Mendoza
?/?	9	c.949A>G	p.(Lys317Glu)	Hetero	no	r.(?)	-	Unknown	g.28699897T>C	-	CHEK2_000032	-	-	DNA	SEQ-NG	18-dec-2020	Fares Taie	Panel (30 genes) APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53	Multigenetic panel	Breast cancer	unknown	-	-	Breast cancer	1	Silvina Sisterna-Hospital de Comunidad
?/?	9	c.949A>G	p.(Lys317Glu)	Hetero	PALB2	r.(949a>g)	-	Unknown	g.28699897T>C	-	CHEK2_000032	-	-	DNA	SEQ-NG	17-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	European	-	-	Breast cancer	1	Jesica Ramirez-Hospital Central de Mendoza
?/?	9	c.992T>C	p.(Met331Thr)	Hetero	no	r.(?)	RECLASSIFIED MARCH 2018	Unknown	g.28699854A>G	-	CHEK2_000002	-	-	DNA	SEQ-NG, CNV	13-aug-2017	Genesia - Progenitest, COLOR	Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	-	Italian-Russian	-	-	-	1	Vanesa Lotersztein-Genesia/Progenitest
+/+	11	c.1100del	p.(Thr367Metfs*15)	Hetero	N/A	r.(1100del)	-	Unknown	g.28695869del	-	CHEK2_000044	-	-	DNA	SEQ-NG	28-jan-2022	Genda/Color	Panel (29 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53.	Multigenetic panel	Breast cancer	German/Italian	-	-	Breast cancer	1	Lina Nuñez-Private Practice
+/+	11	c.1100del	p.(Thr367Metfs*15)	Hetero	N/A	r.(1100del)	-	Unknown	g.28695869del	-	CHEK2_000044	-	-	DNA	SEQ-NG	22-mar-2022	Genia/Invitae	Panel (22 genes) ATM, ATR, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FANCA, GEN1, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PM52, PTEN, RAD51C, RAD51D, STK11, TP53	Multigenetic panel	--	Belgian/Belgian	-	-	-	1	Pablo Kalfayan-Hospital Italiano
+/+	11	c.1100delC	p.(Thr367Metfs*15)	Hetero	BRCA1	r.(?)	-	Unknown	g.28695869delG	-	CHEK2_000035	-	-	DNA	CNV, SEQ-NG	8-sep-2020	Color	(deriv. Genda) Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	-	Spanish-Greek	-	-	-	1	Santiago Acevedo-Hospital Británico (Servicio de Mastologiía)
?/?	11	c.1175C>T	p.(Ala392Val)	Hetero	no	r.(?)	-	Unknown	g.28695794G>A	-	CHEK2_000043	-	-	DNA	SEQ-NG	14-jun-2021	Genesia/Invitae	Panel de (27 genes) APC, ATM, BAP1, BRCA1, BRCA2, CDH1, CHEK2, DICER1, FH, FLCN, MET, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SDHB, SDHS, STK11, TP53, TSC1, TSC2, VHL	Multigenetic panel	-	Spanish/Argentinian; Spanish/Italian	-	-	-	1	Pablo Kalfayan-Hospital Italiano
?/?	12	c.1211A>G	p.(Tyr404Cys)	Hetero	no	r.(1211a>g)	-	Unknown	g.28695758T>C	-	CHEK2_000046	-	-	DNA	SEQ-NG	19-12-22	IACA	Panel (22 genes) APC, ATM, BLM, BMPR1A, CDH1, CHEK2, EPCAM, GALNT12, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53.	Multigenetic panel	Breast cancer	Italian	-	-	Breast cancer	1	Silvina Sisterna-Hospital de Comunidad
?/+?	12	c.1259G>A	p.(Cys420Tyr)	Hetero	no	r.(?)	RECLASSIFIED JULY 2022	Unknown	g.28695710C>T	-	CHEK2_000008	-	-	DNA	SEQ-NG	29-mar-2017	GENDA, COLOR	Hereditary cancer panel (19 genes)	Multigenetic panel	--	Italian-English	-	-	-	1	Rita Valdez-Hospital Alemán
?/?	12	c.1270T>C	p.(Tyr424His)	Hetero	no	r.(?)	-	Unknown	g.28695232A>G	-	CHEK2_000015	-	-	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.1270T>C	p.(Tyr424His)	Hetero	no	r.(1270u>c)	RECLASSIFIED JULY 2022	Unknown	g.28695232A>G	-	CHEK2_000015	-	-	DNA	SEQ-NG	17-jun-2021	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	Lobular hyperplasia	Polish/jew (Ashkenazi)	-	-	Breast cancer, Colon cancer	1	Lina Nuñez-Private Practice
?/?	12	c.1270T>C	p.(Tyr424His)	Hetero	no	r.(1270u>c)	-	Unknown	g.28695232A>G	-	CHEK2_000015	-	-	DNA	SEQ-NG	20-09-18	CEMIC	complete gene sequencing: BRCA1, BRCA2, TP53, PTEN, STK11, CHEK2, PALB2, ATM, NBN	Multigenetic panel	Breast cancer	Russian-Ashkenazi	-	-	Breast cancer, Endometrial cancer, Parotid cancer	1	Lina Nuñez-Private Practice
+/+?	12	c.1283C>T	p.(Ser428Phe)	Hetero	N/A	r.(?)	RECLASSIFIED JUNE 2022. RISK FACTOR.	Unknown	g.28695219G>A	-	CHEK2_000020	-	The c.1283C>T (p.Ser428Phe) variant is well described in the literature, and is thought to be a founder variant in the Ashkenazi Jewish population (Shaag et al. 2005). This variant is a low penetrance allele, resulting in a two-fold increase in breast cancer risk for women over 50.	DNA	SEQ-NG	6-aug-2018	GENDA, COLOR	Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	Breast cancer	Hugarian-Jew	-	(antec ambos/explica cuadro clínico)	Breast cancer	1	Lina Nuñez-Private Practice
+/+?	12	c.1283C>T	p.(Ser428Phe)	Hetero	N/A	r.(?)	RISK FACTOR.	Unknown	g.28695219G>A	-	CHEK2_000020	-	This variant is a low penetrance allele, resulting in a two-fold increase in breast cancer risk for women over 50.	DNA	CNV, SEQ-NG	15-jul-2019	Color	Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	-	Ashkenazai	-	-	-	1	Erika Stegmayer-CIOC
+/+?	12	c.1283C>T	p.(Ser428Phe)	Hetero	no	r.(1283c>u)	RECLASSIFIED JULY 2022. RISK FACTOR.	Unknown	g.28695219G>A	-	CHEK2_000020	-	-	DNA	SEQ-NG	15-mar-2021	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	jew (Ashkenazi);Polish;Russian	-	-	Breast cancer	1	Lina Nuñez-Private Practice
?/?	12	c.1312G>T	p.(Asp438Tyr)	Hetero	no	r.(?)	-	Unknown	g.28695190C>A	-	CHEK2_000005	-	-	DNA	SEQ-NG	2-nov-2017	GENDA, COLOR	Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	N/A	Italian	-	-	Breast cancer	1	Norma Rossi-Hospital de Córdoba
?/?	13	c.1406T>C	p.(Val469Ala)	Hetero	no	r.(?)	-	Unknown	g.28694087A>G	-	CHEK2_000031	-	-	DNA	CNV, SEQ-NG	3-dec-2019	Invitae (deriv. Genda)	Invitae Multi-Cancer Panel (84 genes)	Multigenetic panel	Colon cancer	Italian	-	-	Colon cancer	1	Jesica Ramirez-Hospital Central de Mendoza
+?/+?	13	c.1427C>T	p.(Thr476Met)	Hetero	no	r.(?)	-	Unknown	g.28694066G>A	-	CHEK2_000006	-	-	DNA	SEQ-NG	21-jun-2017	GENDA, COLOR	Hereditary Cancer Risk Test (30 genes)	Multigenetic panel	-	Italian	-	-	-	1	Rita Valdez-Hospital Alemán
?/+?	12	c.1427C>T	p.(Thr476Met)	Hetero	no	r.(?)	-	Unknown	g.28694066G>A	-	CHEK2_000006	-	-	DNA	SEQ-NG	12-jan-2021	Genesia/Invitae	Secuenciación (NGS) panel Invitae de cancer de mama	Multigenetic panel	-	Italian; English	-	-	-	1	Luisina Bruno-Instituto Fleming
?/?	13i	c.1461+6T>C	p.?	Hetero	no	r.spl?	-	Unknown	g.28694026A>G	-	CHEK2_000050	-	-	DNA	SEQ-NG	01-sep-2021	Genos/Color	Panel GENOS (30 genes) APC, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FLCN, GREM1, MLH1, MSH2, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53	Multigenetic panel	-	Basque-French-Spanish/German (Not Ashkenazi)	-	-	-	1	Pablo Kalfayan-Hospital Italiano
-/-?	15	c.1497G>C	p.(=)	Hetero	no	r.(=)	-	Unknown	g.28689180C>G	-	CHEK2_000012	-	-	DNA	SEQ-NG	3-jan-2018	CEMIC	Panel CEMIC	-	-	Italian-Spanish	-	-	-	1	Pablo Kalfayan-Hospital Italiano
+?/+?	15	c.1555C>T	p.(Arg519*)	Hetero	N/A	r.(?)	-	Unknown	g.28687974G>A	-	CHEK2_000024	-	-	DNA	SEQ-NG, CNV	11-sep-2019	GENDA, COLOR	Hereditary Cancer Risk Test (30 Genes)	Multigenetic panel	Breast cancer	Spanish-Croatian	-	CIA (antec ambos/explica cuadro)	Breast cancer, Sarcoma	1	Lina Nuñez-Hospital Alemán
?/?	15	c.1556G>T	p.(Arg519Leu)	Hetero	no	r.(1556g>u)	-	Unknown	g.28687973C>A	-	CHEK2_000016	-	-	DNA	SEQ-NG	07-12-22	Genda/Color	Panel (29 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INKa), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, POLE, POLD1, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53.	Multigenetic panel	Colon cancer	Italian/Italian	-	-	Breast cancer, Colon cancer	1	Pablo Kalfayan-Hospital Italiano

Legend

How to query

sither

CHEK2 (checkpoint kinase 2)