ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.2223G>T (p.Val741=) (rs1057522996)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000574448 SCV000668901 likely benign Hereditary cancer-predisposing syndrome 2016-05-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000574448 SCV000684193 likely benign Hereditary cancer-predisposing syndrome 2017-03-29 criteria provided, single submitter clinical testing
GeneDx RCV000419722 SCV000530306 likely benign not specified 2017-02-17 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000419722 SCV000917067 uncertain significance not specified 2018-02-09 criteria provided, single submitter clinical testing Variant summary: BRIP1 c.2223G>T alters a non-conserved nucleotide resulting in a synonymous change and 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 121374 control chromosomes (ExAC). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2223G>T in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Multiple clinical diagnostic laboratories via ClinVar submissions (evaluation after 2014) have classified the variant as "likely benign." Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000457839 SCV000558563 likely benign Familial cancer of breast; Fanconi anemia, complementation group J 2017-10-17 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.