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NM_000059.4(BRCA2):c.8633-26A>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 5, 2020
Accession:
VCV000052643.5
Variation ID:
52643
Description:
single nucleotide variant
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NM_000059.4(BRCA2):c.8633-26A>G

Allele ID
67311
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32376644 (GRCh38) GRCh38 UCSC
13: 32950781 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32950781A>G
NC_000013.11:g.32376644A>G
NG_012772.3:g.66165A>G
... more HGVS
Protein change
-
Other names
IVS20-26A>G
Canonical SPDI
NC_000013.11:32376643:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00022
The Genome Aggregation Database (gnomAD), exomes 0.00052
1000 Genomes Project 0.00100
Trans-Omics for Precision Medicine (TOPMed) 0.00026
Exome Aggregation Consortium (ExAC) 0.00042
Links
Breast Cancer Information Core (BIC) (BRCA2): 8861-26&base_change=A to G
ClinGen: CA025748
dbSNP: rs56268579
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Aug 5, 2020 RCV000045582.9
Benign 2 criteria provided, single submitter Apr 21, 2016 RCV000113976.3
Likely benign 1 criteria provided, single submitter Oct 25, 2017 RCV000501105.2
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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
13782 13897

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Apr 21, 2016)
criteria provided, single submitter
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Michigan Medical Genetics Laboratories,University of Michigan
Accession: SCV000267821.1
Submitted: (Apr 21, 2016)
Evidence details
Likely benign
(Oct 25, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Department of Pathology and Laboratory Medicine,Sinai Health System
Study: Canadian Open Genetics Repository (COGR)
Accession: SCV000592216.2
Submitted: (Oct 30, 2017)
Evidence details
Benign
(Aug 05, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary breast and ovarian cancer syndrome
Allele origin: germline
Invitae
Accession: SCV000073595.9
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jun 27, 2002)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000147422.1
Submitted: (Mar 28, 2014)
Evidence details

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
The breast cancer information core: database design, structure, and scope. Szabo C Human mutation 2000 PMID: 10923033

Text-mined citations for rs56268579...

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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 Nov 10, 2021