ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3915del (p.Phe1305fs) (rs397507698)

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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 RCV000510108 SCV000608057 pathogenic Hereditary cancer-predisposing syndrome 2016-09-16 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 RCV000510108 SCV000683592 pathogenic Hereditary cancer-predisposing syndrome 2017-04-10 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000162054 SCV000326938 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Division Human Genetics,Medical University Innsbruck RCV000162054 SCV000212019 pathogenic Breast-ovarian cancer, familial 2 2015-02-11 no assertion criteria provided clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000162054 SCV000300683 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Integrated Genetics/Laboratory Corporation of America RCV000496905 SCV000694730 pathogenic Hereditary breast and ovarian cancer syndrome 2017-08-14 criteria provided, single submitter clinical testing Variant summary: The c.3915delT (p.Phe1305Leufs) variant in BRCA2 gene is a frameshift change that results in the loss of the ~2085 amino acids of BRCA2 protein (~60%). This change is predicted to cause loss of normal protein function through protein truncation or nonsense-mediated mRNA decay, which is a known mechanism for the disease. The variant is absent from the large control population datasets of ExAC and gnomAD (87118 and 206196 chrs tested, respectively). The c.3915delT has been reported in several affected individuals via published reports and was shown to segregate with the disease. Lastly, it is cited as Pathogenic by reputable databases/clinical laboratories. Taking together, the variant was classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505906 SCV000600568 pathogenic not provided 2017-04-15 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496905 SCV000587689 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000162054 SCV000297523 pathogenic Breast-ovarian cancer, familial 2 2012-07-02 no assertion criteria provided clinical testing

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