Variant · Snv
COL1A2 NM_000089.4(COL1A2):c.582T>G (p.Ala194=)
CI-VAR-00122548Explore in graph →p.Ala194=NM_000089.4:c.582T>GClinVar 669534 rs144540908
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 |
|---|---|---|---|---|---|---|---|---|
| 669534 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; Cardiovascular phenotype; Uterine corpus endometrial carcinoma; Sarcoma; Ovarian serous cystadenocarcinoma; Hepatocellular carcinoma | germline | 7 | Jan 11, 2026 | clinvar |