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 protein's function, in the format Reported/Curator concluded; '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect 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
• MLH1
• MSH2
• MSH6
• MUTYH
• PALB2
• PMS2
• PTEN
• APC
• P53
• STK11
• TSC1
• RET
• VHL

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

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.

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:

• 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
• Austral
• Baylor Genetics
• 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
• Domeq&Lafage
• Dr. Rapela
• Fares Taie
• FARESTAIE/Héritas
• 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 de Gastroenterologia " Dr. Carlos Bonorino Udaondo"
• Hospital Italiano de Buenos Aires
• Hospital Universitario Austral
• IdenGene
• Imegen
• IHEM-CONICET CCT Mendoza
• Labgenetics
• Laboratorio Integral S.R.L.
• Laboratorio Tucumán
• LACE
• Macrogen
• MANLAB
• MANLAB/Sistemas genómicos
• MEDgenomica
• Myriad
• Reference Laboratory Genetics
• Sanatorio Allende
• Sistemas Genómicos
• Stamboulian
• STEM
• Trinidad Medical Center
• Turner
• VZ Laboratorios

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.