ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5591A>G (p.Asp1864Gly) (rs786202808)

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
Ambry Genetics RCV000165818 SCV000216565 uncertain significance Hereditary cancer-predisposing syndrome 2014-09-04 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign),Rarity in general population databases (dbsnp, esp, 1000 genomes)
Counsyl RCV000412174 SCV000489119 uncertain significance Breast-ovarian cancer, familial 2 2016-08-22 criteria provided, single submitter clinical testing
Invitae RCV000820675 SCV000961397 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-09-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 1864 of the BRCA2 protein (p.Asp1864Gly). The aspartic acid residue is weakly conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 186254). 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.

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.