ClinVar Miner

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

dbSNP: rs1555590388
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
Counsyl RCV000662926 SCV000785876 likely pathogenic Fanconi anemia complementation group J; Neoplasm of ovary 2017-12-27 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001177936 SCV001342252 pathogenic Hereditary cancer-predisposing syndrome 2019-08-12 criteria provided, single submitter clinical testing This variant inserts 1 nucleotide in exon 16 of the BRIP1 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRIP1 function is a known mechanism of disease. Based on available evidence, this variant is classified as Pathogenic.
Myriad Genetics, Inc. RCV003316789 SCV004019329 pathogenic Familial cancer of breast 2023-02-27 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.