ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1096-6T>G

gnomAD frequency: 0.00001  dbSNP: rs1180195480
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
Invitae RCV000801658 SCV000941446 uncertain significance Familial cancer of breast 2022-12-20 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the CHEK2 gene. It does not directly change the encoded amino acid sequence of the CHEK2 protein. This variant is not present in population databases (gnomAD no frequency). 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 disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 647204). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions.
Fulgent Genetics, Fulgent Genetics RCV002495075 SCV002780295 uncertain significance Familial cancer of breast; Li-Fraumeni syndrome 2; Bone osteosarcoma; Malignant tumor of prostate; Colorectal cancer 2021-08-04 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003584753 SCV004361359 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-24 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the -6 position of intron 10 of the CHEK2 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with CHEK2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is 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.