ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6938-10T>A

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 RCV003341731 SCV004052523 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-08 criteria provided, single submitter clinical testing The c.6938-10T>A intronic variant results from a T to A substitution 10 nucleotides upstream from coding exon 12 in the BRCA2 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and will result in the creation or strengthening of a novel splice acceptor site; however direct evidence is insufficient. 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.