ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer) (rs80357945)

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Total submissions: 11
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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) RCV000031107 SCV000299931 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000218890 SCV000273379 pathogenic Hereditary cancer-predisposing syndrome 2016-11-18 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)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031107 SCV000325630 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000496527 SCV000591441 pathogenic Hereditary breast and ovarian cancer syndrome 2015-11-17 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506947 SCV000600328 pathogenic not provided 2017-05-30 criteria provided, single submitter clinical testing
GeneDx RCV000506947 SCV000779555 pathogenic not provided 2017-09-20 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.3358_3359delGT at the cDNA level and p.Val1120Ter (V1120X) at the protein level. The substitution creates a nonsense variant, which changes a Valine to a premature stop codon (GTT>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been identified in high risk breast and/or ovarian cancer patients (Meindl 2002, Pal 2015), and is considered pathogenic.
Counsyl RCV000031107 SCV000785850 pathogenic Breast-ovarian cancer, familial 1 2017-12-27 criteria provided, single submitter clinical testing
Color RCV000218890 SCV000905032 pathogenic Hereditary cancer-predisposing syndrome 2015-04-01 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031107 SCV000053703 pathogenic Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031107 SCV000144737 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496527 SCV000587304 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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