ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.889G>T (p.Glu297Ter) (rs879255298)

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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) RCV000239093 SCV000783667 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000239093 SCV000296490 likely pathogenic Breast-ovarian cancer, familial 2 2016-06-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001260440 SCV001437437 likely pathogenic Hereditary breast and ovarian cancer syndrome 2020-09-21 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.889G>T (p.Glu297X) 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. The variant was absent in 240594 control chromosomes (gnomAD). To our knowledge, no occurrence of c.889G>T in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submitters including an expert panel (ENIGMA) (evaluation after 2014) cite the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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