Variant · Deletion
SMAD4 NM_005359.6(SMAD4):c.1392del (p.Val465fs)
CI-VAR-00169808Explore in graph →p.Val465fsNM_005359.6:c.1392delClinVar 987795 rs1910480814
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 |
|---|---|---|---|---|---|---|---|---|
| 987795 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Generalized juvenile polyposis/juvenile polyposis coli; Hereditary cancer-predisposing syndrome; Familial thoracic aortic aneurysm and aortic dissection; Juvenile polyposis syndrome | germline | 3 | Nov 19, 2025 | clinvar |