ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5236C>G (p.His1746Asp) (rs80357146)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000637721 SCV000759194 uncertain significance Hereditary breast and ovarian cancer syndrome 2019-10-22 criteria provided, single submitter clinical testing This sequence change replaces histidine with aspartic acid at codon 1746 of the BRCA1 protein (p.His1746Asp). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with ovarian cancer (PMID: 25036526). ClinVar contains an entry for this variant (Variation ID: 531399). This variant has been reported to affect BRCA1 protein function (PMID: 11877378, 30209399). 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 RCV001072554 SCV001237959 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.