ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2517C>A (p.Tyr839Ter) (rs80358516)

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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 RCV000131057 SCV000185987 pathogenic Hereditary cancer-predisposing syndrome 2014-02-21 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)
Breast Cancer Information Core (BIC) (BRCA2) RCV000113053 SCV000146060 pathogenic Breast-ovarian cancer, familial 2 2000-06-12 no assertion criteria provided clinical testing
Color RCV000131057 SCV000906892 pathogenic Hereditary cancer-predisposing syndrome 2018-09-08 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113053 SCV000326719 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) RCV000113053 SCV000300526 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 RCV000223462 SCV000279394 pathogenic not provided 2017-03-08 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.2517C>A at the cDNA level and p.Tyr839Ter (Y839X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 2745C>A. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAC>TAA), 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.

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