ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.783T>G (p.Tyr261Ter) (rs80357321)

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Total submissions: 8
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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) RCV000031278 SCV000299482 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000212162 SCV000210087 pathogenic not provided 2014-03-20 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.783T>G at the cDNA level and p.Tyr261Ter (Y261X) at the protein level. The substitution creates a nonsense variant, changing a Tyrosine to a premature stop codon (TAT>TAG). 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 a family with an indication of a hereditary predisposition to breast and/or ovarian cancer (van der Hout 2006). This mutation has also been listed in the Breast Cancer Information Core (BIC) database as clinically important. We therefore consider this variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031278 SCV000326407 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509946 SCV000607773 pathogenic Hereditary cancer-predisposing syndrome 2017-04-17 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)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212162 SCV000887734 pathogenic not provided 2018-04-05 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031278 SCV000053883 pathogenic Breast-ovarian cancer, familial 1 2011-05-16 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031278 SCV000145681 pathogenic Breast-ovarian cancer, familial 1 2013-05-21 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496530 SCV000587075 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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