ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5359T>A (p.Cys1787Ser) (rs80357065)

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Total submissions: 5
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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) RCV000077619 SCV000244399 not provided Breast-ovarian cancer, familial 1 2019-03-25 reviewed by expert panel curation To our knowledge this variant has not been seen alone. Clinical evidence in Goldgar et al 2004 (PMID: 15290653) is not applicable unless this variant is observed in cis with c.5363G>A (Variation ID 55551). We recommend that if c.5359T>A is detected in an individual, presence of c.5363G>A should be assessed. Functional assay data analysis of the c.5359T>A variant suggests that it doesn't alter protein function alone, but that it does alter function when in combination with BRCA1 c.5363G>A (PMID: 30765603; 30209399). For more information see the haplotype entry BRCA1 c.[5359T>A;5363G>A] (Variant ID 624568).
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000077619 SCV000326291 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077619 SCV000109422 pathogenic Breast-ovarian cancer, familial 1 2008-04-07 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077619 SCV000145480 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000077619 SCV001238617 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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