ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3296T>G (p.Leu1099Arg) (rs772709195)

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 RCV000165832 SCV000216579 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-20 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000477468 SCV000547271 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2019-11-22 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 1099 of the BRIP1 protein (p.Leu1099Arg). The leucine residue is weakly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is present in population databases (rs772709195, ExAC 0.009%). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 186266). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506104 SCV000600914 uncertain significance not specified 2017-07-21 criteria provided, single submitter clinical testing
Color RCV000165832 SCV000909746 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-22 criteria provided, single submitter clinical testing

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.