ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.616del (p.Ser206fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002353701 SCV002654977 pathogenic Hereditary cancer-predisposing syndrome 2021-05-12 criteria provided, single submitter clinical testing The c.616delT pathogenic mutation, located in coding exon 5 of the BRIP1 gene, results from a deletion of one nucleotide at nucleotide position 616, causing a translational frameshift with a predicted alternate stop codon (p.S206Rfs*68). 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.
Baylor Genetics RCV004572323 SCV005059263 likely pathogenic Familial cancer of breast 2024-02-06 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004572323 SCV005405896 pathogenic Familial cancer of breast 2024-08-27 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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.