ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8494G>A (p.Glu2832Lys)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002447674 SCV002681622 uncertain significance Hereditary cancer-predisposing syndrome 2020-03-28 criteria provided, single submitter clinical testing The p.E2832K variant (also known as c.8494G>A), located in coding exon 19 of the BRCA2 gene, results from a G to A substitution at nucleotide position 8494. The glutamic acid at codon 2832 is replaced by lysine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.