Variant · Snv
ABCA3 NM_001089.3(ABCA3):c.448-14C>G
CI-VAR-00053427Explore in graph →NM_001089.3:c.448-14C>GClinVar 318572 rs62040683
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 |
|---|---|---|---|---|---|---|---|---|
| 318572 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts | 2 | Interstitial lung disease due to ABCA3 deficiency; Gastric cancer; Uterine carcinosarcoma; Ovarian serous cystadenocarcinoma; Acute myeloid leukemia; Lung cancer | germline | 7 | Feb 02, 2026 | clinvar |