ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.684-8C>T

dbSNP: rs1555921406
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558950 SCV000633209 likely benign Familial cancer of breast 2024-01-09 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776662 SCV000912285 likely benign Hereditary cancer-predisposing syndrome 2020-02-26 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174804 SCV001338150 uncertain significance not specified 2020-02-10 criteria provided, single submitter clinical testing Variant summary: CHEK2 c.684-8C>T alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 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 251240 control chromosomes (gnomAD). 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.684-8C>T in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance and likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Sema4, Sema4 RCV000776662 SCV002537631 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-16 criteria provided, single submitter curation

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.