ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5286T>A (p.Tyr1762Ter) (rs80358754)

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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) RCV000113417 SCV000282404 pathogenic Breast-ovarian cancer, familial 2 2016-04-22 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 RCV000113417 SCV000327193 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000113417 SCV000744466 pathogenic Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781162 SCV000919041 pathogenic Hereditary breast and ovarian cancer syndrome 2018-12-20 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.5286T>A (p.Tyr1762X) 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 (e.g., p.Ser1764fsX3, p.Asn1784fsX2, and p.Val1804fsX2). The variant was absent in 245356 control chromosomes. The c.5286T>A variant has been reported in the literature in multiple affected individuals. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Multiple clinical diagnostic laboratories/reputable databases have classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Breast Cancer Information Core (BIC) (BRCA2) RCV000113417 SCV000146591 pathogenic Breast-ovarian cancer, familial 2 1998-08-25 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000113417 SCV000733265 pathogenic Breast-ovarian cancer, familial 2 no assertion criteria provided clinical testing

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