ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1153A>T (p.Lys385Ter) (rs80358411)

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Total submissions: 5
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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) RCV000112887 SCV000300398 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112887 SCV000326504 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561185 SCV000661151 pathogenic Hereditary cancer-predisposing syndrome 2016-12-26 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)
GeneDx RCV000657628 SCV000779371 pathogenic not provided 2016-10-04 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.1153A>T at the cDNA level and p.Lys385Ter (K385X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA2 1381A>T. The substitution creates a nonsense variant, which changes a Lysine to a premature stop codon (AAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 Lys385Ter has been observed in at least one family with breast and ovarian cancer (de la Hoya 2002), and we consider it to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000112887 SCV000145824 pathogenic Breast-ovarian cancer, familial 2 1998-03-04 no assertion criteria provided clinical testing

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