ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9370_9383delinsCT (p.Asn3124_Arg3128delinsLeu)

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
GeneDx RCV003221671 SCV003918621 uncertain significance not provided 2022-10-14 criteria provided, single submitter clinical testing In-frame deletion of 5 amino acids and insertion of 1 amino acid in a non-repeat region within the critical DNA binding domain (Yang et al., 2002); Observed in a patient with breast cancer (Bisgin et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); A missense change at this residue (Asn3124Ile) has been reported as pathogenic at GeneDx; Also known as 9598_9611delinsCT; This variant is associated with the following publications: (PMID: 12228710, 31228304)

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.