ClinVar Miner

Submissions for variant NM_032043.2(BRIP1):c.3336T>C (p.Asp1112=) (rs369843642)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213752 SCV000273515 likely benign Hereditary cancer-predisposing syndrome 2015-01-20 criteria provided, single submitter clinical testing
Invitae RCV000230206 SCV000291041 likely benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Counsyl RCV000409082 SCV000490021 likely benign Fanconi anemia, complementation group J 2016-10-03 criteria provided, single submitter clinical testing
Counsyl RCV000410201 SCV000490022 likely benign Neoplasm of ovary 2016-10-03 criteria provided, single submitter clinical testing
Color RCV000213752 SCV000537483 likely benign Hereditary cancer-predisposing syndrome 2015-07-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781176 SCV000919055 likely benign not specified 2018-06-15 criteria provided, single submitter clinical testing Variant summary: BRIP1 c.3336T>C alters a non-conserved nucleotide resulting in a synonymous change. 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 reported in 13/276782 control chromosomes in gnomad, with the highest frequency being East Asian (9/18866), which is 7 fold higher than the maximal expected frequency for a pathogenic variant in BRIP1, evidence for the benign nature of this variant. To our knowledge, no occurrence of c.3336T>C in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.

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.