ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3883C>T (p.Gln1295Ter) (rs879255309)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cancer Molecular Diagnostics Core,Tianjin Medical University Cancer Institute and Hospital RCV000656471 SCV000778341 likely pathogenic Breast cancer, susceptibility to 2018-03-25 criteria provided, single submitter research
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000661418 SCV000783694 pathogenic Breast-ovarian cancer, familial 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000496728 SCV000759181 pathogenic Hereditary breast and ovarian cancer syndrome 2017-09-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1295*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 252424). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000239260 SCV000296579 likely pathogenic not provided 2017-04-04 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496728 SCV000587688 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Yang An-Suei Laboratory,Academia Sinica RCV000504604 SCV000583415 pathogenic Neoplasm of the breast criteria provided, single submitter clinical testing

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