ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.6469C>T (p.Gln2157Ter) (rs397507859)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000772762 SCV000906141 pathogenic Hereditary cancer-predisposing syndrome 2018-01-01 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000241247 SCV000327438 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) RCV000241247 SCV000301056 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 RCV000657633 SCV000779376 pathogenic not provided 2017-01-12 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.6469C>T at the cDNA level and p.Gln2157Ter (Q2157X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also denoted BRCA2 6697C>T using alternate nomenclature, has been reported in association with hereditary breast/ovarian cancer and is considered pathogenic (Zuradelli 2010).

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