ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2731del (p.Glu911fs) (rs80359344)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000113084 SCV000300553 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000562830 SCV000673112 pathogenic Hereditary cancer-predisposing syndrome 2016-11-14 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)
Color RCV000562830 SCV000683498 pathogenic Hereditary cancer-predisposing syndrome 2016-07-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000496863 SCV000694622 likely pathogenic Hereditary breast and ovarian cancer syndrome 2016-09-09 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.2731delG (p.Glu911Lysfs) 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.2808delA/p.K936fs). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 120768 control chromosomes and has been reported in at-least one out of 440 families with known BRCA2 mutations. In addition, multiple reputable databases classified this variant as pathogenic. Taken together, this variant is classified as likely pathogenic until additional reports of its presence among unrelated probands with HBOC and supporting experimental data are obtained.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113084 SCV000146099 pathogenic Breast-ovarian cancer, familial 2 1998-03-04 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496863 SCV000587640 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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