ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.1321G>A (p.Val441Met) (rs1060501782)

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
Counsyl RCV000662896 SCV000785816 uncertain significance Fanconi anemia, complementation group J; Neoplasm of ovary 2017-12-11 criteria provided, single submitter clinical testing
Invitae RCV000457451 SCV000547386 uncertain significance Familial cancer of breast; Fanconi anemia, complementation group J 2018-07-20 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 441 of the BRIP1 protein (p.Val441Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRIP1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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.