ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8067del (p.Cys2689fs) (rs80359693)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA2) RCV000113865 SCV000147264 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000113865 SCV000327811 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) RCV000113865 SCV000301239 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 RCV000480179 SCV000568490 pathogenic not provided 2016-10-11 criteria provided, single submitter clinical testing This deletion of one nucleotide in BRCA2 is denoted c.8067delT at the cDNA level and p.Cys2689TrpfsX5 (C2689WfsX5) at the protein level. The normal sequence, with the base that is deleted in braces, is TCTG[T]GTTT. The deletion causes a frameshift which changes a Cysteine to a Tryptophan at codon 2689, and creates a premature stop codon at position 5 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.8067delT has not, to our knowledge, been published in the literature as pathogenic or benign. We consider this variant to be pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496634 SCV000587934 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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