Variant · Snv
SERPINA1 NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
CI-VAR-00006508Explore in graph →p.Glu288ValNM_001127701.1:c.863A>TClinVar 17969 rs17580
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 |
|---|---|---|---|---|---|---|---|---|
| 17969 | Pathogenic/Pathogenic, low penetrance; other | criteria provided, multiple submitters, no conflicts | 2 | PI S; Alpha-1-antitrypsin deficiency; Chronic obstructive pulmonary disease; Cystic fibrosis; Inborn genetic diseases; Susceptibility to severe coronavirus disease (COVID-19); SERPINA1-related disorder; Uterine corpus endometrial carcinoma; Nonpapillary renal cell carcinoma; Colorectal cancer; Malignant tumor of esophagus; Sarcoma; Gastric cancer; Cholangiocarcinoma; Hepatocellular carcinoma; Autosomal recessive SERPINA1-related disorders | germline | 38 | Apr 29, 2026 | clinvar |