ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4325C>G (p.Ser1442Ter) (rs80358670)

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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) RCV000077728 SCV000300738 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 RCV000160186 SCV000210530 pathogenic not provided 2014-10-01 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.4325C>G at the cDNA level and p.Ser1442Ter (S1442X) at the protein level. 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. This variant is also known as 4553C>G using alternate nomenclature. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000077728 SCV000296629 pathogenic Breast-ovarian cancer, familial 2 2015-08-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570068 SCV000666012 pathogenic Hereditary cancer-predisposing syndrome 2016-02-26 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 RCV000570068 SCV000683611 pathogenic Hereditary cancer-predisposing syndrome 2017-03-08 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077728 SCV000109531 pathogenic Breast-ovarian cancer, familial 2 2010-10-27 no assertion criteria provided clinical testing

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