ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8978C>G (p.Ser2993Ter) (rs397508025)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221983 SCV000275930 pathogenic Hereditary cancer-predisposing syndrome 2016-11-23 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)
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000241294 SCV000301328 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000160161 SCV000210489 pathogenic not provided 2014-01-31 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.8978C>G at the cDNA level and p.Ser2993Ter (S2993X) at the protein level. The substitution creates a nonsense variant, changing a Serine to a premature stop codon (TCA>TGA). This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not been reported in the literature to our knowledge, another nonsense variant at the same codon (BRCA2 c.8987C>A) has been published as pathogenic in association with Hereditary breast and/or ovarian cancer (Bonadona 2005). We therefore consider this variant to be pathogenic.

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