ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.1966A>G (p.Thr656Ala) (rs398122736)

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 RCV000216699 SCV000276321 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-05 criteria provided, single submitter clinical testing
Color RCV000216699 SCV000683466 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-17 criteria provided, single submitter clinical testing
Invitae RCV000637334 SCV000758786 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-04-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 656 of the BRCA2 protein (p.Thr656Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a family affected with hereditary breast and ovarian cancer (PMID: 21120943). ClinVar contains an entry for this variant (Variation ID: 91765). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Sharing Clinical Reports Project (SCRP) RCV000077673 SCV000109476 uncertain significance Breast-ovarian cancer, familial 2 2013-04-10 no assertion criteria provided clinical testing

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.