ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5968_5969del (p.Asp1990fs) (rs80359552)

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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) RCV000113512 SCV000300959 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000113512 SCV000296674 pathogenic Breast-ovarian cancer, familial 2 2015-11-28 criteria provided, single submitter clinical testing
GeneDx RCV000485008 SCV000566542 pathogenic not provided 2015-05-11 criteria provided, single submitter clinical testing This deletion of 2 nucleotides in BRCA2 is denoted c.5968_5969delGA at the cDNA level and p.Asp1990CysfsX12 (D1990CfsX12) at the protein level. The normal sequence, with the bases that are deleted in braces, is ATCA[GA]TGCT. The deletion causes a frameshift, which changes an Aspartic Acid to a Cysteine at codon 1990, and creates a premature stop codon at position 12 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. we consider this variant to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113512 SCV000146741 pathogenic Breast-ovarian cancer, familial 2 1998-11-30 no assertion criteria provided clinical testing

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