ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1528G>T (p.Glu510Ter) (rs80358438)

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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) RCV000112930 SCV000300437 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 RCV000485041 SCV000568454 pathogenic not provided 2016-11-01 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.1528G>T at the cDNA level and p.Glu510Ter (E510X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in patients with breast and/or ovarian cancer (Stegel 2011, Novakovic 2012, Henouda 2016, Schenkel 2016) and is considered pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000112930 SCV000145882 pathogenic Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735525 SCV000863663 pathogenic Breast and/or ovarian cancer 2009-11-23 no assertion criteria provided clinical testing

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