ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1141-7_1141-3delCTTAT (rs1060501744)

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
Invitae RCV000477390 SCV000547274 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-08-01 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the BRIP1 mRNA. It does not directly change the encoded amino acid sequence of the BRIP1 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRIP1-related disease. Algorithms developed to predict the effect of sequence changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant is a novel missense change with uncertain impact on mRNA splicing. It has been classified as a Variant of Uncertain Significance.

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.