ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.250G>T (p.Glu84Ter) (rs398122661)

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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) RCV000077108 SCV000299432 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Counsyl RCV000077108 SCV000221122 pathogenic Breast-ovarian cancer, familial 1 2015-02-06 criteria provided, single submitter literature only
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077108 SCV000325379 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Color RCV000583852 SCV000688388 pathogenic Hereditary cancer-predisposing syndrome 2017-06-14 criteria provided, single submitter clinical testing
Invitae RCV000702788 SCV000831657 pathogenic Hereditary breast and ovarian cancer syndrome 2018-01-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu84*) in the BRCA1 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 been reported in an individual affected with breast cancer (PMID: 23192404). ClinVar contains an entry for this variant (Variation ID: 91591). 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 RCV000583852 SCV001176644 pathogenic Hereditary cancer-predisposing syndrome 2018-01-29 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense);Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Sharing Clinical Reports Project (SCRP) RCV000077108 SCV000108905 pathogenic Breast-ovarian cancer, familial 1 2008-07-23 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000077108 SCV001243083 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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