ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1462-12A>G

gnomAD frequency: 0.00001  dbSNP: rs1339529482
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
Color Diagnostics, LLC DBA Color Health RCV000581958 SCV000689660 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001853917 SCV002141767 uncertain significance Familial cancer of breast 2023-05-18 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 491601). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%). This sequence change falls in intron 13 of the CHEK2 gene. It does not directly change the encoded amino acid sequence of the CHEK2 protein.
Baylor Genetics RCV001853917 SCV005058431 uncertain significance Familial cancer of breast 2023-11-09 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.