ClinVar Genomic variation as it relates to human health
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)
Variation ID: 37738 Accession: VCV000037738.54
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 13q13.1 13: 32332863 (GRCh38) [ NCBI UCSC ] 13: 32907000 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 Apr 15, 2024 Aug 10, 2015 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000059.4:c.1385A>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000050.3:p.Glu462Gly missense NC_000013.11:g.32332863A>G NC_000013.10:g.32907000A>G NG_012772.3:g.22384A>G LRG_293:g.22384A>G LRG_293t1:c.1385A>G LRG_293p1:p.Glu462Gly U43746.1:n.1613A>G - Protein change
- E462G
- Other names
- p.E462G:GAA>GGA
- 1613A>G
- Canonical SPDI
- NC_000013.11:32332862:A:G
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
Trans-Omics for Precision Medicine (TOPMed) 0.00016
Exome Aggregation Consortium (ExAC) 0.00023
The Genome Aggregation Database (gnomAD) 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
The Genome Aggregation Database (gnomAD), exomes 0.00025
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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BRCA2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
18542 | 18699 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Benign (8) |
reviewed by expert panel
|
Aug 10, 2015 | RCV000031319.20 | |
Benign (2) |
criteria provided, multiple submitters, no conflicts
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Jan 30, 2024 | RCV000195299.23 | |
Conflicting interpretations of pathogenicity (9) |
criteria provided, conflicting classifications
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Aug 15, 2023 | RCV000173630.38 | |
Benign/Likely benign (4) |
criteria provided, multiple submitters, no conflicts
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Dec 17, 2020 | RCV000162999.15 | |
Benign/Likely benign (3) |
criteria provided, multiple submitters, no conflicts
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Jul 1, 2023 | RCV000656588.25 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Benign
(Aug 10, 2015)
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reviewed by expert panel
Method: curation
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Breast-ovarian cancer, familial 2
Affected status: unknown
Allele origin:
germline
|
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000244421.1
First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on … (more)
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00000293 (less)
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Likely benign
(-)
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criteria provided, single submitter
Method: clinical testing
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NOT SPECIFIED
Affected status: unknown
Allele origin:
germline
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PreventionGenetics, part of Exact Sciences
Accession: SCV000301756.1
First in ClinVar: Oct 02, 2016 Last updated: Oct 02, 2016 |
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Uncertain significance
(Mar 28, 2016)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000538483.1
First in ClinVar: Apr 08, 2017 Last updated: Apr 08, 2017 |
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or … (more)
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Multiple publications classify as VUS/not pathogenic; ExAC: 27/66408 European chromosomes (less)
Method: Genome/Exome Filtration
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Likely benign
(May 28, 2019)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: unknown
Allele origin:
unknown
|
Mendelics
Accession: SCV001138997.1
First in ClinVar: Jan 13, 2020 Last updated: Jan 13, 2020 |
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Likely benign
(Jul 10, 2014)
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criteria provided, single submitter
Method: literature only
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Breast-ovarian cancer, familial 2
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000220497.2
First in ClinVar: Mar 29, 2015 Last updated: Dec 24, 2022 |
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Benign
(Aug 15, 2023)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital
Accession: SCV002550277.4
First in ClinVar: Jul 30, 2022 Last updated: Aug 18, 2023 |
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Benign
(Jan 30, 2024)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Invitae
Accession: SCV000071806.14
First in ClinVar: Jul 03, 2013 Last updated: Feb 14, 2024 |
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Benign
(Jan 06, 2016)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Vantari Genetics
Accession: SCV000267014.1
First in ClinVar: Apr 13, 2016 Last updated: Apr 13, 2016 |
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Benign
(Oct 09, 2014)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: yes
Allele origin:
germline
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Genome Diagnostics Laboratory, University Medical Center Utrecht
Study: VKGL Data-share Consensus
Accession: SCV000743259.1 First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
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Benign
(Sep 21, 2015)
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criteria provided, single submitter
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: yes
Allele origin:
germline
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Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744410.1 First in ClinVar: Sep 29, 2015 Last updated: Sep 29, 2015 |
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Benign
(Oct 13, 2014)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Eurofins Ntd Llc (ga)
Accession: SCV000224758.5
First in ClinVar: Jun 28, 2015 Last updated: Apr 09, 2018 |
Sex: mixed
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Likely benign
(Jun 16, 2021)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: no
Allele origin:
germline
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Genetic Services Laboratory, University of Chicago
Accession: SCV002067783.1
First in ClinVar: Jan 29, 2022 Last updated: Jan 29, 2022 |
Comment:
DNA sequence analysis of the BRCA2 gene demonstrated a sequence change, c.1385A>G, in exon 10 that results in an amino acid change, p.Glu462Gly. This sequence … (more)
DNA sequence analysis of the BRCA2 gene demonstrated a sequence change, c.1385A>G, in exon 10 that results in an amino acid change, p.Glu462Gly. This sequence change has been described in the gnomAD database with a frequency of 0.043% in the European sub-population (dbSNP rs56403624). The p.Glu462Gly change was reported to co-occur with a pathogenic sequence change in the BRCA2 gene (PMID: 16905680). In addition, this variant was found not to segregate with disease in affected families (PMID: 19200354). The p. Glu462Gly change affects a moderately conserved amino acid residue located in a domain of the BRCA2 protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Glu462Gly change. Functional studies reported that this sequence change demonstrates similar protein function to the wild-type allele in assays of cellular survival and viability, homologous recombination repair and genome stability (PMID: 15695382). These collective evidences indicate that this is a likely benign sequence change. (less)
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Benign
(Dec 17, 2020)
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criteria provided, single submitter
Method: curation
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Sema4, Sema4
Accession: SCV002533229.1
First in ClinVar: Jun 24, 2022 Last updated: Jun 24, 2022 |
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Benign
(Nov 19, 2014)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV000213487.5
First in ClinVar: Mar 24, 2015 Last updated: Nov 29, 2022 |
Comment:
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA … (more)
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. (less)
Number of individuals with the variant: 1
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Benign
(Aug 20, 2015)
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criteria provided, single submitter
Method: clinical testing
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Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
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Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000494425.2
First in ClinVar: Feb 04, 2017 Last updated: Dec 11, 2022 |
Comment:
Variant Summary: The c.1385A>G variant involves the alteration of a non-conserved nucleotide and 2/5 in silico tools predict a benign outcome. The variant was observed … (more)
Variant Summary: The c.1385A>G variant involves the alteration of a non-conserved nucleotide and 2/5 in silico tools predict a benign outcome. The variant was observed in the large and broad cohorts of the ExAC project at an allele frequency of 0.023%, primarily observed in the European (Non-Finnish) cohort at a frequency of 0.041%. These frequencies do not exceed the maximal expected allele frequency for a pathogenic variant in BRCA2 (0.075%). The variant was reported in the literature and databases in individuals who also have pathogenic BRCA1 (n=1) and BRCA2 (n=3) mutations (UMD, BIC, Simard_2007) suggesting a benign nature of the variant. Additionally, the variant was found to not segregate with disease in families tested (3 affected family members did not carry the variant; Gomez Garcia_2009). Functional studies showed the variant performed similarly to wild-type BRCA2 in assays of cellular survival and viability, homologous recombination repair, and genome instability (Wu_2005). Multiple reputable databases and clinical labs all classify the variant as benign/likely benign (Emory Genteics, UMD, ARUP, Ambry Genetics, SCRP, GeneDx, Counsyl) along with publications using multifactorial probability based models (Lindor_2012, Gomez Garcia_2009). All data, including co-segregation, functional assays, co-occurrence and the occurrence of this variant in the control population all support the classification of benign, therefore this variant has been classified as benign. (less)
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Likely benign
(Feb 05, 2015)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Color Diagnostics, LLC DBA Color Health
Accession: SCV000683419.2
First in ClinVar: Feb 19, 2018 Last updated: Dec 11, 2022 |
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Likely benign
(May 19, 2021)
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criteria provided, single submitter
Method: clinical testing
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Not Provided
Affected status: yes
Allele origin:
germline
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GeneDx
Accession: SCV000210559.8
First in ClinVar: Feb 24, 2015 Last updated: Mar 04, 2023 |
Comment:
This variant is associated with the following publications: (PMID: 10717622, 24504028, 15026808, 21952622, 21520273, 24323938, 19200354, 15172753, 20104584, 19491284, 18451181, 21990134, 17924331, 15695382, 19563646, 16905680, … (more)
This variant is associated with the following publications: (PMID: 10717622, 24504028, 15026808, 21952622, 21520273, 24323938, 19200354, 15172753, 20104584, 19491284, 18451181, 21990134, 17924331, 15695382, 19563646, 16905680, 27616075, 29036293, 32444794) (less)
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Benign
(Jul 01, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: yes
Allele origin:
germline
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CeGaT Center for Human Genetics Tuebingen
Accession: SCV001148973.16
First in ClinVar: Feb 03, 2020 Last updated: Apr 15, 2024 |
Comment:
BRCA2: BP1, BP4, BS3:Supporting, BS4
Number of individuals with the variant: 1
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Benign
(Apr 14, 2017)
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no assertion criteria provided
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000778645.1
First in ClinVar: Jun 25, 2018 Last updated: Jun 25, 2018 |
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Uncertain significance
(May 29, 2002)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 2
Affected status: yes
Allele origin:
germline
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Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000145862.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Observation 1:
Number of individuals with the variant: 12
Observation 2:
Number of individuals with the variant: 2
Geographic origin: Austria
Observation 3:
Number of individuals with the variant: 2
Ethnicity/Population group: Caucasian
Geographic origin: Germany
Observation 4:
Number of individuals with the variant: 2
Ethnicity/Population group: Central/Eastern European
Observation 5:
Number of individuals with the variant: 3
Ethnicity/Population group: French Canadian
Observation 6:
Number of individuals with the variant: 2
Ethnicity/Population group: French, German, Native American
Observation 7:
Number of individuals with the variant: 1
Ethnicity/Population group: Lebanese
Observation 8:
Number of individuals with the variant: 11
Ethnicity/Population group: Western European
Observation 9:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, English
Observation 10:
Number of individuals with the variant: 1
Ethnicity/Population group: Western European, Latin American, Caribbean
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Benign
(Sep 07, 2006)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial 2
Affected status: not provided
Allele origin:
germline
|
Sharing Clinical Reports Project (SCRP)
Accession: SCV000053924.4
First in ClinVar: Apr 04, 2013 Last updated: Sep 29, 2015 |
|
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Benign
(-)
|
no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
unknown
|
Department of Pathology and Laboratory Medicine, Sinai Health System
Additional submitter:
Franklin by Genoox
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000591741.2 First in ClinVar: Aug 27, 2017 Last updated: Apr 13, 2021 |
Comment:
The BRCA2 p.Glu462Gly variant was identified in 16 of 5462 proband chromosomes (frequency: 0.003) from individuals with breast or ovarian cancer and was absent in … (more)
The BRCA2 p.Glu462Gly variant was identified in 16 of 5462 proband chromosomes (frequency: 0.003) from individuals with breast or ovarian cancer and was absent in 200 control chromosomes from theses studies (Capanu 2011, Farrugia 2008, Hadjisavvas 2003, Hadjisavvas 2004, Simard 2007, van Harssel 2010); however, an insufficient number of controls were included in these studies to determine the frequency of this variant in the general population. The variant was also reported in HGMD, LOVD, UMD (14X as a neutral variant), and the BIC database (37X with unknown clinical importance). This variant was identified in dbSNP (ID: rs56403624) “With non-pathogenic allele”, and at a low frequency (0.0003) in the NHLBI Exome Sequencing Project. This residue is conserved in mammals but not in lower organisms, and computational analyses (PolyPhen-2, SIFT, AlignGVGD) provide inconsistent predictions regarding the impact to the protein; this information is not very predictive of pathogenicity. Functional assays assessing cell survival, homologous recombination, centrosome regulation and nuclear localization have found no effect of the variant on normal BRCA2 function (Farrugia 2008, Wu 2005). In addition, five in silico studies predict this variant to be neutral or of little clinical significance (Capanu 2011 21520273, Easton 2007, Farrugia 2008, Lindor 2012, van Harssel 2010). This variant was not found to co-segregate with disease in an assessment of four families (Mohammadi 2009), and Simard (2007) found this variant co-occurring with a known deleterious mutation, increasing the likelihood that this variant does not have functional importance. Furthermore, Myriad classifies this variant as a polymorphism (personal communication). In summary, based on the above information, this variant meets our laboratory's criteria to be classified as benign. (less)
Number of individuals with the variant: 2
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Benign
(-)
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no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
|
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)
Study: VKGL Data-share Consensus
Accession: SCV001797651.1 First in ClinVar: Aug 21, 2021 Last updated: Aug 21, 2021 |
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Benign
(-)
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no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
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Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001905801.1 First in ClinVar: Sep 23, 2021 Last updated: Sep 23, 2021 |
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Benign
(-)
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no assertion criteria provided
Method: clinical testing
|
not specified
Affected status: yes
Allele origin:
germline
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Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001959985.1 First in ClinVar: Oct 02, 2021 Last updated: Oct 02, 2021 |
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Benign
(Mar 02, 2020)
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no assertion criteria provided
Method: clinical testing
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Breast-ovarian cancer, familial, susceptibility to, 2
Affected status: yes
Allele origin:
germline
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BRCAlab, Lund University
Accession: SCV004244215.1
First in ClinVar: Feb 14, 2024 Last updated: Feb 14, 2024 |
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Germline Functional Evidence
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
HelpTitle | Author | Journal | Year | Link |
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Functional assays for analysis of variants of uncertain significance in BRCA2. | Guidugli L | Human mutation | 2014 | PMID: 24323938 |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). | Lindor NM | Human mutation | 2012 | PMID: 21990134 |
BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients. | Kote-Jarai Z | British journal of cancer | 2011 | PMID: 21952622 |
Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling. | Capanu M | Genetic epidemiology | 2011 | PMID: 21520273 |
A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example. | Mohammadi L | BMC cancer | 2009 | PMID: 19563646 |
A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history. | Gómez García EB | Breast cancer research : BCR | 2009 | PMID: 19200354 |
Functional assays for classification of BRCA2 variants of uncertain significance. | Farrugia DJ | Cancer research | 2008 | PMID: 18451181 |
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. | Easton DF | American journal of human genetics | 2007 | PMID: 17924331 |
Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer. | Simard J | Journal of medical genetics | 2007 | PMID: 16905680 |
Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. | Wu K | Cancer research | 2005 | PMID: 15695382 |
Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation. | Hadjisavvas A | Cancer genetics and cytogenetics | 2004 | PMID: 15172753 |
BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families. | Claes K | British journal of cancer | 2004 | PMID: 15026808 |
BRCA2 germline mutations in Cypriot patients with familial breast/ovarian cancer. | Hadjisavvas A | Human mutation | 2003 | PMID: 12552570 |
The breast cancer information core: database design, structure, and scope. | Szabo C | Human mutation | 2000 | PMID: 10923033 |
Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases. | Malone KE | Cancer | 2000 | PMID: 10717622 |
http://hci-exlovd.hci.utah.edu/variants.php?select_db=BRCA2&action=search_all&search_Variant%2FDNA=c.1385A%3EG | - | - | - | - |
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BRCA2 | - | - | - | - |
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Text-mined citations for rs56403624 ...
HelpRecord last updated Apr 20, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.