ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.4859T>G (p.Leu1620Ter) (rs80358710)

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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) RCV000113353 SCV000146496 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 RCV000113353 SCV000327098 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) RCV000113353 SCV000300793 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 RCV000657631 SCV000779374 pathogenic not provided 2016-10-05 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.4859T>G at the cDNA level and p.Leu1620Ter (L1620X) at the protein level. Using alternate nomenclature, this variant has been published as BRCA2 c.5087T>G. The substitution creates a nonsense variant, which changes a Leucine to a premature stop codon (TTA>TGA), 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 individuals with ovarian cancer and is considered pathogenic (Risch 2006, Zhang 2011).
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496625 SCV000587728 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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