ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5255C>G (p.Ala1752Gly) (rs80357028)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563368 SCV000668421 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-17 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV000563368 SCV000688551 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-25 criteria provided, single submitter clinical testing
Invitae RCV001050415 SCV001214521 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-01-07 criteria provided, single submitter clinical testing This sequence change replaces alanine with glycine at codon 1752 of the BRCA1 protein (p.Ala1752Gly). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with breast cancer, as well as healthy individuals (PMID: 23842040, 30287823). ClinVar contains an entry for this variant (Variation ID: 482908). This variant has been reported not to substantially affect BRCA1 protein function (PMID: 30209399, 23842040). 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.
Brotman Baty Institute,University of Washington RCV001077091 SCV001242958 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.