Variant · Snv
COL5A2 NM_000393.5(COL5A2):c.3199C>T (p.Arg1067Cys)
CI-VAR-00154514Explore in graph →p.Arg1067CysNM_000393.5:c.3199C>TClinVar 898195 rs539362640
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 |
|---|---|---|---|---|---|---|---|---|
| 898195 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic aneurysm and aortic dissection; Hepatocellular carcinoma | germline | 5 | Nov 10, 2025 | clinvar |