ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7934del (p.Arg2645fs) (rs80359688)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132051 SCV000187113 pathogenic Hereditary cancer-predisposing syndrome 2015-08-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Breast Cancer Information Core (BIC) (BRCA2) RCV000077418 SCV000147222 pathogenic Breast-ovarian cancer, familial 2 1999-03-23 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077418 SCV000327767 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000077418 SCV000282452 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Integrated Genetics/Laboratory Corporation of America RCV000257923 SCV000695109 pathogenic Hereditary breast and ovarian cancer syndrome 2016-07-12 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.7934delG (p.Arg2645Asnfs) variant located in the helical domain (Interpro) results in a premature termination codon, predicted to cause a truncated or absent BRCA2 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant of interest was not observed in controls (ExAC, 1000 Gs or ESP) and has been reported in multiple affected individuals. The variant of interest has been indicated to be an Afrikaner founder mutation. Multiple reputable databases/clinical laboratories cite the variant as "pathogenic." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Pathogenic.
Invitae RCV000257923 SCV000073361 pathogenic Hereditary breast and ovarian cancer syndrome 2018-11-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2645Asnfs*3) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in many individuals affected with breast and/or ovarian cancer, and is especially common in individuals of South African Afrikaner descent (PMID: 8988179, 26577449, 26915939, 22638694, 24728189, 23885733). This variant is also known as 8162delG in the literature. ClinVar contains an entry for this variant (Variation ID: 52440). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506376 SCV000600772 pathogenic not provided 2017-06-12 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000257923 SCV000587922 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000077418 SCV000109216 pathogenic Breast-ovarian cancer, familial 2 2012-03-30 no assertion criteria provided clinical testing

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