Variant · Snv
ELAC2 NM_018127.7(ELAC2):c.829G>A (p.Ala277Thr)
CI-VAR-00293803Explore in graph →p.Ala277ThrNM_018127.7:c.829G>AClinVar 2227685 rs1235527429
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 |
|---|---|---|---|---|---|---|---|---|
| 2227685 | Uncertain significance | criteria provided, multiple submitters, no conflicts | 2 | Inborn genetic diseases; Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17 | germline | 2 | Dec 29, 2023 | clinvar |