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NM_000059.4(BRCA2):c.631+4A>G

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
May 13, 2020
Accession:
VCV000052056.3
Variation ID:
52056
Description:
single nucleotide variant
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NM_000059.4(BRCA2):c.631+4A>G

Allele ID
66724
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32326617 (GRCh38) GRCh38 UCSC
13: 32900754 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32900754A>G
NC_000013.11:g.32326617A>G
NG_012772.3:g.16138A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000013.11:32326616:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA023861
dbSNP: rs397507841
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Jul 17, 2017 RCV000258315.3
Likely pathogenic 1 criteria provided, single submitter May 13, 2020 RCV001379699.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BRCA2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
14116 14229

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 02, 2015)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge
Accession: SCV000327387.3
Submitted: (Oct 28, 2016)
Evidence details
Likely pathogenic
(Jul 17, 2017)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Department of Medical Genetics, Oslo University Hospital
Accession: SCV000605721.2
Submitted: (Oct 18, 2017)
Evidence details
Likely pathogenic
(May 13, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV001577546.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change falls in intron 7 of the BRCA2 gene. It does not directly change the encoded amino acid sequence of the BRCA2 protein, … (more)

Functional evidence

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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 this variant

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Title Author Journal Year Link
Diagnostic mRNA splicing assay for variants in <i>BRCA1</i> and <i>BRCA2</i> identified two novel pathogenic splicing aberrations. Wangensteen T Hereditary cancer in clinical practice 2019 PMID: 31143303
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Rebbeck TR Human mutation 2018 PMID: 29446198
<i>BRCA1 and BRCA2</i> mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. Heramb C Hereditary cancer in clinical practice 2018 PMID: 29339979
Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations. Steffensen AY Familial cancer 2010 PMID: 20455026
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Text-mined citations for rs397507841...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021