Variant · Snv
CFTR NM_000492.4(CFTR):c.489+1G>T
CI-VAR-00007823Explore in graph →NM_000492.4:c.489+1G>TClinVar 38799 rs78756941
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 |
|---|---|---|---|---|---|---|---|---|
| 38799 | Pathogenic | practice guideline | 4 | Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation; Bronchiectasis with or without elevated sweat chloride 1; CFTR-related disorder; Familial pancreatic carcinoma; Respiratory ciliopathies including non-CF bronchiectasis | germline | 34 | Mar 03, 2004 | clinvar |