Variant · Snv
TERT NM_198253.3(TERT):c.3257G>A (p.Arg1086His)
CI-VAR-00043188Explore in graph →p.Arg1086HisNM_198253.3:c.3257G>AClinVar 242237 rs200288187
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 |
|---|---|---|---|---|---|---|---|---|
| 242237 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis; TERT-related disorder; Dyskeratosis congenita; Acute myeloid leukemia; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9 | germline | 11 | Jan 01, 2026 | clinvar |