ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.274C>T (p.Gln92Ter) (rs80358529)

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Total submissions: 9
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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) RCV000031380 SCV000300313 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000212204 SCV000210448 pathogenic not provided 2014-04-17 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA2 c.274C>T at the cDNA level and p.Gln92Ter (Q92X) at the protein level. The substitution creates a nonsense variant, changing a Glutamine to a premature stop codon (CAA>TAA). This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in the Breast Cancer Information Core (BIC) database as clinically important. BRCA2 Gln92Ter is therefore considered pathogenic.
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University RCV000240677 SCV000265895 pathogenic Neoplasm of the breast 2015-11-01 criteria provided, single submitter research
Ambry Genetics RCV000215800 SCV000278230 pathogenic Hereditary cancer-predisposing syndrome 2016-11-11 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496410 SCV000591671 pathogenic Hereditary breast and ovarian cancer syndrome criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212204 SCV000600522 pathogenic not provided 2016-10-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031380 SCV000053985 pathogenic Breast-ovarian cancer, familial 2 2012-04-16 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031380 SCV000146483 pathogenic Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496410 SCV000587544 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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