Variant · Other
TERT NM_198253.3(TERT):c.1048_1049del (p.Leu350fs)
CI-VAR-00096104Explore in graph →p.Leu350fsNM_198253.3:c.1048_1049delClinVar 539192 rs1554042899
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
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 539192 | Pathogenic | criteria provided, single submitter | 1 | Pulmonary fibrosis; Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis | germline | 2 | Oct 03, 2017 | clinvar |