TSC2 (tuberin) germline pathogenic variant
Deterministic view of the source YAML entity. Clinical authority remains with the cited source IDs and reviewer sign-off state.
| ID | BIO-TSC2-GERMLINE |
|---|---|
| Type | Biomarker |
| Aliases | TSC2 (туберин) germline патогенний варіантTSC2 germline pathogenic variant |
| Status | reviewed 2026-05-18 | pending_clinical_signoff |
| Diseases | DIS-RCC |
| Sources | SRC-NCCN-CNS-2025 |
Biomarker Facts
| Biomarker type | gene_mutation |
|---|---|
| Mutation details | {"functional_impact": "loss_of_function", "gene": "TSC2", "gene_hugo_id": "HGNC:12363", "variant_type": "missense_or_truncating"} |
| Related biomarkers | None declared |
Notes
TSC2 germline — drives Tuberous Sclerosis Complex (TSC); typically more severe phenotype than TSC1. Same tumor spectrum: SEGA, renal AML, LAM, cardiac rhabdomyomas, cortical tubers + skin findings (angiofibromas, shagreen patch). mTOR inhibitors (everolimus, sirolimus) active. PKD1 contiguous-gene deletion in some carriers → early-onset polycystic kidney disease. STUB pending two-Co-Lead signoff.
Used By
Actionability
BMA-TSC2-GERMLINE-TUBEROUS-SCLEROSIS- TSC2 germline pathogenic variants drive Tuberous Sclerosis Complex (TSC) — the more clini...