ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3528delinsCTTT (p.Ile1176_Lys1177insPhe)

dbSNP: rs1555572545
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000580510 SCV000684264 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000580510 SCV005029270 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-04 criteria provided, single submitter clinical testing The c.3528delAinsCTTT variant, located in coding exon 19 of the BRIP1 gene, results from an in-frame deletion of A and insertion of CTTT at nucleotide positions 3528 to 3528. This results in the insertion of a phenylalanine residue at codon 1176. This amino acid region is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). 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.