Variant · Snv
COL1A1 NM_000088.4(COL1A1):c.1984-5C>A
CI-VAR-00031752Explore in graph →NM_000088.4:c.1984-5C>AClinVar 196607 rs66592376
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 |
|---|---|---|---|---|---|---|---|---|
| 196607 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Connective tissue disorder; Osteogenesis imperfecta type I; Infantile cortical hyperostosis; Osteogenesis imperfecta; Ehlers-Danlos syndrome, arthrochalasia type; Ehlers-Danlos syndrome; Cardiovascular phenotype; Ehlers-Danlos/osteogenesis imperfecta syndrome; Clear cell carcinoma of kidney; Colon adenocarcinoma; Gastric cancer; Ovarian serous cystadenocarcinoma; Thymoma; COL1A1-related disorder; Lung cancer; Familial cancer of breast; Cervical cancer | germline | 23 | Jun 01, 2026 | clinvar |