ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6783A>C (p.Glu2261Asp)

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
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999094 SCV005624515 uncertain significance not provided 2024-12-03 criteria provided, single submitter clinical testing The BRCA2 c.6783A>C (p.Glu2261Asp) variant has been reported in the published literature in a reportedly healthy individual (PMID: 36243179 (2023)), but not in individuals with BRCA2-related conditions. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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.