ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2379+5G>T

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 RCV004952578 SCV005553030 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-16 criteria provided, single submitter clinical testing The c.2379+5G>T intronic variant results from a G to T substitution 5 nucleotides after coding exon 15 in the BRIP1 gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may weaken the native splice donor site. Based on the available evidence, the clinical significance of this variant 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.