ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2796_2797CA[1] (p.Thr933fs) (rs80359348)

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Total submissions: 4
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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) RCV000113092 SCV000300557 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 RCV000113092 SCV000326767 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000478798 SCV000568461 pathogenic not provided 2016-07-18 criteria provided, single submitter clinical testing This deletion of two nucleotides in BRCA2 is denoted c.2798_2799delCA at the cDNA level and p.Thr933ArgfsX2 (T933RfsX2) at the protein level. The normal sequence, with the bases that are deleted in braces, is GACA[CA]GGTG. The deletion causes a frameshift which changes a Threonine to an Arginine at codon 933, and creates a premature stop codon at position 2 of the new reading frame. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA2 c.2798_2799delCA, also published as 3026delCA using alternate nomenclature, has been observed in association with breast and ovarian cancer in patients of Korean descent (Choi 2004, Kim 2012, Kang 2015). We consider this variant to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113092 SCV000146111 pathogenic Breast-ovarian cancer, familial 2 2002-06-20 no assertion criteria provided clinical testing

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