ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
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
Research and Development, ARUP Laboratories RCV001664102 SCV001878768 pathogenic Breast-ovarian cancer, familial 2; Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome 2020-01-20 criteria provided, single submitter curation
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.