ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2905+4T>C

gnomAD frequency: 0.00002  dbSNP: rs373835270
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565993 SCV000666183 likely benign Hereditary cancer-predisposing syndrome 2023-06-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000636100 SCV000757532 likely benign Familial cancer of breast; Fanconi anemia complementation group J 2024-11-02 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000565993 SCV001347675 uncertain significance Hereditary cancer-predisposing syndrome 2019-09-06 criteria provided, single submitter clinical testing This variant causes an T>C nucleotide substitution at the +4 position of intron 19 of the BRIP1 gene. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 2/280098 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
GeneDx RCV001571712 SCV001796232 uncertain significance not provided 2023-06-27 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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.