ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.187A>C (p.Lys63Gln)

dbSNP: rs1593882594
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 RCV001013478 SCV001174070 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-17 criteria provided, single submitter clinical testing The p.K63Q variant (also known as c.187A>C), located in coding exon 2 of the BRCA2 gene, results from an A to C substitution at nucleotide position 187. The lysine at codon 63 is replaced by glutamine, an amino acid with similar properties. This variant was identified in an individual from Barbados who was diagnosed with breast at age 54 (George SHL et al. JAMA Netw Open, 2021 Mar;4:e210307). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated 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.