ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.396T>A (p.Cys132Ter) (rs397507320)

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Total submissions: 5
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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) RCV000031450 SCV000282385 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031450 SCV000326948 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000031450 SCV000489644 pathogenic Breast-ovarian cancer, familial 2 2016-11-01 criteria provided, single submitter clinical testing
GeneDx RCV000520725 SCV000617460 pathogenic not provided 2017-07-12 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.396T>A at the cDNA level and p.Cys132Ter (C132X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Cysteine to a premature stop codon (TGT>TGA),and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNAdecay. This variant has been observed in at least one individual with early-onset breast cancer (Waddell 2008), and isconsidered pathogenic
Sharing Clinical Reports Project (SCRP) RCV000031450 SCV000054055 pathogenic Breast-ovarian cancer, familial 2 2007-06-01 no assertion criteria provided clinical testing

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