ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter)

dbSNP: rs1603346857
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 RCV001026299 SCV001188649 pathogenic Hereditary cancer-predisposing syndrome 2023-08-23 criteria provided, single submitter clinical testing The c.734_740dupAAATATA pathogenic mutation, located in coding exon 6 of the BRIP1 gene, results from a duplication of AAATATA at nucleotide position 734 to 740, causing a translational frameshift with a predicted alternate stop codon (p.Y247*). 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.
Invitae RCV001052702 SCV001216926 pathogenic Familial cancer of breast; Fanconi anemia complementation group J 2019-03-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This variant has not been reported in the literature in individuals with BRIP1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr247*) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV003336272 SCV004045249 pathogenic Familial cancer of breast 2023-05-31 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is 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.