ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8488-2A>G

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 RCV005052412 SCV005685639 likely pathogenic not provided 2024-07-13 criteria provided, single submitter clinical testing RNA studies demonstrated aberrant splicing, producing multiple transcripts that are predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease (PMID: 22632462); Not observed at significant frequency in large population cohorts (gnomAD); Also known as 8716-2A>G; This variant is associated with the following publications: (PMID: 23893897, 29922827, 22632462)

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.