ClinVar Miner

Submissions for variant NM_032043.3(BRIP1):c.2753C>T (p.Thr918Ile)

dbSNP: rs587781298
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129006 SCV000172902 uncertain significance Hereditary cancer-predisposing syndrome 2012-12-28 criteria provided, single submitter clinical testing This alteration is predicted to be benign with a score of 0.001 (sensitivity: 0.99; specificity: 0.09)This alteration is predicted to be tolerated with a score of 0.250 (conservation: 1.95)
Labcorp Genetics (formerly Invitae), Labcorp RCV002295282 SCV002596830 uncertain significance Familial cancer of breast; Fanconi anemia complementation group J 2022-07-23 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 140817). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 918 of the BRIP1 protein (p.Thr918Ile).

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.