ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5205A>T (p.Glu1735Asp)

dbSNP: rs431825412
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000205011 SCV000260014 uncertain significance Hereditary breast ovarian cancer syndrome 2023-09-10 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies have shown that this missense change affects BRCA1 function (PMID: 30209399). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 30209399) indicates that this missense variant is expected to disrupt BRCA1 function. ClinVar contains an entry for this variant (Variation ID: 96943). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 1735 of the BRCA1 protein (p.Glu1735Asp).
Sharing Clinical Reports Project (SCRP) RCV000083064 SCV000115138 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2008-03-19 no assertion criteria provided clinical testing
Brotman Baty Institute, University of Washington RCV000083064 SCV001241926 not provided Breast-ovarian cancer, familial, susceptibility to, 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.