ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6359C>G (p.Ser2120Ter) (rs397507845)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509973 SCV000608185 pathogenic Hereditary cancer-predisposing syndrome 2016-07-18 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)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257199 SCV000327403 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) RCV000257199 SCV000324446 pathogenic Breast-ovarian cancer, familial 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000520827 SCV000617469 pathogenic not provided 2017-06-21 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.6359C>G at the cDNA level and p.Ser2120Ter (S2120X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA),and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNAdecay. This variant has been reported in families with breast and/or ovarian cancer (Caux-Moncoutier 2011, Li 2014,Cao 2016) and is considered pathogenic

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