ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3442C>T (p.Gln1148Ter) (rs397507667)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000256705 SCV000326863 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) RCV000256705 SCV000324156 pathogenic Breast-ovarian cancer, familial 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000657569 SCV000779306 pathogenic not provided 2014-10-14 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.3442C>T at the cDNA level and p.Gln1148Ter (Q1148X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), 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 association with breast and/or ovarian cancer (Meindl 2002) and is considered pathogenic.

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