ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.280C>T (p.Gln94Ter) (rs886037972)

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Total submissions: 3
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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) RCV000241148 SCV000299435 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000241148 SCV000325469 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779883 SCV000916770 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-12 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.280C>T (p.Gln94X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.303T>G, p.Tyr101X; c.427G>T, p.Glu143X; c.470_471delCT, p.Ser157X). The variant was absent in 121322 control chromosomes (ExAC). The variant, c.280C>T, has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Kwong_2016). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Both laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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