Variant · Snv
TGFBR2 NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
CI-VAR-00055568Explore in graph →p.Arg339TrpNM_003242.6:c.1015C>TClinVar 374980 rs761991787
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 |
|---|---|---|---|---|---|---|---|---|
| 374980 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Lynch syndrome; Loeys-Dietz syndrome; Familial thoracic aortic aneurysm and aortic dissection; Loeys-Dietz syndrome 2; Colorectal cancer, hereditary nonpolyposis, type 6; Malignant tumor of esophagus; TGFBR2-related disorder | germline | 10 | Apr 18, 2025 | clinvar |