Variant · Snv
COL27A1 NM_032888.4(COL27A1):c.5063G>A (p.Arg1688Gln)
CI-VAR-00128212Explore in graph →p.Arg1688GlnNM_032888.4:c.5063G>AClinVar 725068 rs149629527
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 |
|---|---|---|---|---|---|---|---|---|
| 725068 | Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Steel syndrome; COL27A1-related disorder; Thyroid cancer, nonmedullary, 1; Familial cancer of breast; Hepatocellular carcinoma; Clear cell carcinoma of kidney; Colon adenocarcinoma; Gastric cancer; Ovarian serous cystadenocarcinoma | germline | 5 | Jan 19, 2026 | clinvar |