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NM_000059.3(BRCA2):c.7976G>C (p.Arg2659Thr)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel
Submissions:
3 (Most recent: Jun 11, 2021)
Last evaluated:
Aug 10, 2015
Accession:
VCV000052455.2
Variation ID:
52455
Description:
single nucleotide variant
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NM_000059.3(BRCA2):c.7976G>C (p.Arg2659Thr)

Allele ID
67123
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q13.1
Genomic location
13: 32362693 (GRCh38) GRCh38 UCSC
13: 32936830 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.32936830G>C
NC_000013.11:g.32362693G>C
NM_000059.3:c.7976G>C NP_000050.2:p.Arg2659Thr missense
... more HGVS
Protein change
R2659T
Other names
8204G>C
Canonical SPDI
NC_000013.11:32362692:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA025369
dbSNP: rs80359027
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 reviewed by expert panel Aug 10, 2015 RCV000113849.2
Pathogenic 1 criteria provided, single submitter Oct 12, 2020 RCV000583576.2
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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
13713 13826

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 10, 2015)
reviewed by expert panel
Method: curation
Breast-ovarian cancer, familial 2
Allele origin: germline
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)
Accession: SCV000244477.1
Submitted: (Aug 17, 2015)
Evidence details
Publications
PubMed (1)
Other databases
http://hci-exlovd.hci.utah.edu/v…
Comment:
IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on … (more)
Pathogenic
(Oct 12, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000689086.2
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This missense variant replaces arginine with threonine at codon 2659 of the BRCA2 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
Uncertain significance
(Dec 23, 2003)
no assertion criteria provided
Method: clinical testing
Breast-ovarian cancer, familial 2
Allele origin: germline
Breast Cancer Information Core (BIC) (BRCA2)
Accession: SCV000147236.1
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
Functional assays for classification of BRCA2 variants of uncertain significance. Farrugia DJ Cancer research 2008 PMID: 18451181
http://hci-exlovd.hci.utah.edu/variants.php?select_db=BRCA2&action=search_all&search_Variant%2FDNA=c.7976G%3EC - - - -

Text-mined citations for rs80359027...

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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 Jun 19, 2021