ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8455G>C (p.Asp2819His)

dbSNP: rs1479448614
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506706 SCV000600806 uncertain significance not specified 2016-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446983 SCV002680604 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-11 criteria provided, single submitter clinical testing The p.D2819H variant (also known as c.8455G>C), located in coding exon 18 of the BRCA2 gene, results from a G to C substitution at nucleotide position 8455. The aspartic acid at codon 2819 is replaced by histidine, 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.