ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.3643dup (p.Thr1215fs)

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 RCV002452443 SCV002617840 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-12 criteria provided, single submitter clinical testing The c.3643dupA variant, located in coding exon 19 of the BRIP1 gene, results from a duplication of A at nucleotide position 3643, causing a translational frameshift with a predicted alternate stop codon (p.T1215Nfs*6). This alteration occurs at the 3' terminus of theBRIP1 gene, is not expected to trigger nonsense-mediated mRNAdecay, and only impacts the last 35 amino acids of the protein. The exact functional effect of this alteration is unknown. 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.