ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9016T>G (p.Tyr3006Asp) (rs397507416)

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 RCV000132244 SCV000187327 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000465067 SCV000549750 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-10-11 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with aspartic acid at codon 3006 of the BRCA2 protein (p.Tyr3006Asp). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and aspartic acid. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 38202). 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 disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507532 SCV000600838 uncertain significance not specified 2016-09-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031785 SCV000054393 uncertain significance Breast-ovarian cancer, familial 2 2006-10-16 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.