ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2341del (p.Thr781fs)

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
Myriad Genetics, Inc. RCV003337192 SCV004045419 pathogenic Familial cancer of breast 2023-06-06 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Ambry Genetics RCV004334131 SCV005029191 pathogenic Hereditary cancer-predisposing syndrome 2024-02-08 criteria provided, single submitter clinical testing The c.2341delA pathogenic mutation, located in coding exon 15 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 2341, causing a translational frameshift with a predicted alternate stop codon (p.T781Qfs*2). This variant was reported in 1 of 1007 individuals with a personal history of breast cancer (Walsh T et al. JAMA Oncol, 2017 Dec;3:1647-1653). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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.