ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.390C>A (p.Tyr130Ter) (rs80356888)

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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) RCV000112439 SCV000299448 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000048376 SCV000076389 pathogenic Hereditary breast and ovarian cancer syndrome 2018-02-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr130*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs80356888, ExAC 0.01%). This variant has been reported in individuals affected with hereditary breast and/or ovarian cancer (PMID: 25834617, 16287141, 19656164, 22382806). This variant is also known as 509C>A in the literature. ClinVar contains an entry for this variant (Variation ID: 55046). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000131881 SCV000186936 pathogenic Hereditary cancer-predisposing syndrome 2013-11-13 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 RCV000112439 SCV000325785 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000048376 SCV000591261 pathogenic Hereditary breast and ovarian cancer syndrome criteria provided, single submitter clinical testing
Counsyl RCV000112439 SCV000677636 pathogenic Breast-ovarian cancer, familial 1 2017-02-24 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112439 SCV000145229 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 RCV000048376 SCV000587049 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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