ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.7241C>G (p.Ser2414Ter) (rs80358951)

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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) RCV000113736 SCV000301144 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 RCV000217367 SCV000277904 pathogenic Hereditary cancer-predisposing syndrome 2015-08-20 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)
GeneDx RCV000482316 SCV000570832 pathogenic not provided 2018-07-06 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.7241C>G at the cDNA level and p.Ser2414Ter (S2414X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 7469C>G. 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 mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Counsyl RCV000113736 SCV000785525 likely pathogenic Breast-ovarian cancer, familial 2 2017-09-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000482316 SCV000887908 pathogenic not provided 2018-04-20 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000113736 SCV000147056 pathogenic Breast-ovarian cancer, familial 2 2014-01-07 no assertion criteria provided clinical testing

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