CHEK2
Tumor-predisposition control/caution
| MANE transcript | ENST00000404276.6 |
|---|---|
| ClinVar P/LP records | 1025 |
| Low-record-burden flag | no |
| Unit rows | 79 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 14.8% | 325 bp |
| Adjacent exon block | 47.5% | 798 bp |
| Downstream-CDS | 100.0% | 1,629 bp |
Why this classification?
- This gene is retained as a control/caution class because high ClinVar burden should not be read as replacement suitability.
How to read this page
Record coverage summarizes ClinVar P/LP records mapped to this gene. It does not estimate patient coverage, editing efficiency, therapeutic efficacy, or safety.
Downstream-CDS values are transcript-boundary hypotheses. High downstream coverage can be boundary-driven and should be read with payload and context burden.
Condition-associated pathogenic-record groups
Record-level ClinVar condition facets. These are not patient cohorts, disease prevalence, or patient coverage.
| Condition label | P/LP records | Condition architecture | Local coverage | Boundary-CDS coverage |
|---|---|---|---|---|
| Familial cancer of breast | 849 | Tumor-predisposition control context | 0.484099 | 0.990577 |
| Hereditary cancer-predisposing syndrome | 481 | Tumor-predisposition control context | 0.467775 | 0.989605 |
| CHEK2-related cancer predisposition | 61 | Tumor-predisposition control context | 0.540984 | 0.967213 |
| Hereditary breast ovarian cancer syndrome | 53 | Tumor-predisposition control context | 0.528302 | 1.000000 |
| Bone osteosarcoma | 36 | Tumor-predisposition control context | 0.611111 | 1.000000 |
| Familial prostate cancer | 30 | Tumor-predisposition control context | 0.500000 | 1.000000 |