ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8991T>G (p.Tyr2997Ter) (rs397508028)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771470 SCV000903913 pathogenic Hereditary cancer-predisposing syndrome 2017-07-06 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257890 SCV000328021 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) RCV000257890 SCV000324725 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 RCV000657636 SCV000779380 pathogenic not provided 2018-04-09 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.8991T>G at the cDNA level and p.Tyr2997Ter (Y2997X) at the protein level. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAT>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also reported as BRCA2 9219T>G using alternate nomenclature, has been reported in families with breast and/or ovarian cancer (Ahn 2007, Son 2012, Kim 2012, Kang 2015, Eoh 2017) and is considered pathogenic.

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