Variant · Snv
COL5A1 NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)
CI-VAR-00022321Explore in graph →p.Pro1494=NM_000093.5:c.4482G>AClinVar 136899 rs2228560
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 |
|---|---|---|---|---|---|---|---|---|
| 136899 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal; Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome; Colon adenocarcinoma; Colorectal cancer; Sarcoma; Uterine carcinosarcoma; Malignant tumor of esophagus; Adrenocortical carcinoma, hereditary; Uterine corpus endometrial carcinoma; Cholangiocarcinoma; Hepatocellular carcinoma; Uveal melanoma; Thymoma; Acute myeloid leukemia | germline | 16 | Feb 04, 2026 | clinvar |