ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.880G>T (p.Glu294Ter) (rs397508009)

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Total submissions: 6
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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) RCV000077453 SCV000300368 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Counsyl RCV000077453 SCV000154093 likely pathogenic Breast-ovarian cancer, familial 2 2014-03-29 criteria provided, single submitter literature only
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077453 SCV000327971 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000520572 SCV000617463 pathogenic not provided 2017-09-22 criteria provided, single submitter clinical testing This variant is denoted BRCA2 c.880G>T at the cDNA level and p.Glu294Ter (E294X) at the proteinlevel. 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 association with breast and ovarian cancer (Yang 2011, Kim2012) and is considered pathogenic.
Color Health, Inc RCV001186866 SCV001353450 pathogenic Hereditary cancer-predisposing syndrome 2020-01-15 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077453 SCV000109251 pathogenic Breast-ovarian cancer, familial 2 2012-07-05 no assertion criteria provided clinical testing

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