ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3392A>C (p.Tyr1131Ser)

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 RCV004519836 SCV005029247 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-23 criteria provided, single submitter clinical testing The p.Y1131S variant (also known as c.3392A>C), located in coding exon 19 of the BRIP1 gene, results from an A to C substitution at nucleotide position 3392. The tyrosine at codon 1131 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, 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.