Variant · Other
TERT NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
CI-VAR-00033090Explore in graph →p.Glu441delNM_198253.3:c.1317GGA[2]ClinVar 212398 rs377639087
Curated evidence
Evidence by cancer (0 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
Data not yet available
No curated evidence item references this variant yet.
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 212398 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Interstitial lung disease 2; Melanoma, cutaneous malignant, susceptibility to, 9; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Dyskeratosis congenita; Hepatoblastoma; Idiopathic Pulmonary Fibrosis; TERT-related disorder | germline | 17 | Jun 01, 2026 | clinvar |