ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5796_5797del (p.His1932fs) (rs80359537)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131106 SCV000186036 pathogenic Hereditary cancer-predisposing syndrome 2017-10-06 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),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Breast Cancer Information Core (BIC) (BRCA2) RCV000113484 SCV000146701 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Color RCV000131106 SCV000906922 pathogenic Hereditary cancer-predisposing syndrome 2017-10-30 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113484 SCV000327284 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000113484 SCV000489220 pathogenic Breast-ovarian cancer, familial 2 2016-09-13 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113484 SCV000282415 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 RCV000257917 SCV000694903 pathogenic Hereditary breast and ovarian cancer syndrome 2017-03-17 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.5796_5797delTA (p.His1932Glnfs) variant 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. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.5799_5802delCCAA/ p.Asn1933fs). One in silico tool predicts a damaging outcome for this variant. This variant was found in 1/121048 control chromosomes at a frequency of 0.0000083, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA2 variant (0.0007503). This variant has been reported in many affected individuals. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic.
Invitae RCV000257917 SCV000072772 pathogenic Hereditary breast and ovarian cancer syndrome 2018-03-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His1932Glnfs*12) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs763890036, ExAC 0.002%). This variant has been reported in individuals affected with breast, ovarian and/or pancreatic cancer (PMID: 15733268, 16047344, 19619314, 21989927, 23096355, 24145998, 24737347, 25395318). This variant is also known as 6024delTA in the literature. ClinVar contains an entry for this variant (Variation ID: 51940). 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 RCV000113484 SCV000296603 pathogenic Breast-ovarian cancer, familial 2 2015-10-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759630 SCV000889079 pathogenic not provided 2015-10-06 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000257917 SCV000587800 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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