ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.818C>A (p.Ser273Ter) (rs80359068)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219107 SCV000277830 pathogenic Hereditary cancer-predisposing syndrome 2017-09-15 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 RCV000219107 SCV000911746 pathogenic Hereditary cancer-predisposing syndrome 2018-08-17 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000239330 SCV000327831 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) RCV000239330 SCV000324627 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 RCV000657626 SCV000779369 pathogenic not provided 2017-02-21 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.818C>A at the cDNA level and p.Ser273Ter (S273X) at the protein level. Using alternate nomenclature, this variant is defined as BRCA2 1046C>A. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in association with hereditary breast and ovarian cancer (Meyer 2003) and is considered pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000239330 SCV000296591 pathogenic Breast-ovarian cancer, familial 2 2015-11-11 criteria provided, single submitter clinical testing

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