ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3292_3302delinsTTGTCTCTGGATCCAG (p.Ala1098fs) (rs1555572707)

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
GeneDx RCV000657405 SCV000779140 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing This combined deletion and insertion is denoted BRIP1 c.3292_3302del11ins16 at the cDNA level and p.Ala1098LeufsX12 (A1098LfsX12) at the protein level. The surrounding sequence is AGAA[del11][ins16]AGAC. The variant causes a frameshift which changes an Alanine to a Leucine at codon 1098, and creates a premature stop codon at position 12 of the new reading frame. Due to the position of the variant, nonsense mediated decay is not expected to occur, but the variant might cause loss of normal protein function through protein truncation.?? The disrupted region at the end of the gene is not located in a known functional domain. This variant has not, to our knowledge, been reported in the literature. Based on currently available information, it is unclear whether this variant is pathogenic or benign. We consider it to be 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.