Variant · Insertion
SMAD4 NM_005359.6(SMAD4):c.692dup (p.Ser232fs)
CI-VAR-00006567Explore in graph →p.Ser232fsNM_005359.6:c.692dupClinVar 24811 rs377767334
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 |
|---|---|---|---|---|---|---|---|---|
| 24811 | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Juvenile polyposis of stomach; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Hereditary cancer-predisposing syndrome; Juvenile polyposis syndrome; Familial thoracic aortic aneurysm and aortic dissection | germline | 6 | Jul 02, 2025 | clinvar |