ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3413A>G (p.Asp1138Gly) (rs1057518847)

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
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414896 SCV000492724 uncertain significance Hereditary cancer 2015-08-10 criteria provided, single submitter clinical testing
Invitae RCV000814484 SCV000954897 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-09-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 1138 of the BRIP1 protein (p.Asp1138Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRIP1-related disease. ClinVar contains an entry for this variant (Variation ID: 374030). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001199372 SCV001370472 uncertain significance Hereditary Cancer Syndrome 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. This variant was detected in heterozygous state. This variant arose de novo in at least one reported proband.

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.