ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.918+2T>C (rs1603346587)

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
Ambry Genetics RCV001018964 SCV001180263 likely pathogenic Hereditary cancer-predisposing syndrome 2019-01-04 criteria provided, single submitter clinical testing The c.918+2T>C intronic variant results from a T to C substitution two nucleotides after coding exon 6 in the BRIP1 gene. One study detected this alteration in 1/100 Japanese familial breast cancer patients who had previous tested negative for BRCA1/2 mutations (Sato K et al. Cancer Sci., 2017 Nov;108:2287-2294). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.
Cancer Genomics Group,Japanese Foundation For Cancer Research RCV001030544 SCV001193540 likely pathogenic Hereditary breast and ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research

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.