Variant · Snv
SYNE2 NM_182914.3(SYNE2):c.146C>G (p.Thr49Ser)
CI-VAR-00212271Explore in graph →p.Thr49SerNM_182914.3:c.146C>GClinVar 1406473 rs754768287
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
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 1406473 | Uncertain significance | criteria provided, single submitter | 1 | Emery-Dreifuss muscular dystrophy 5, autosomal dominant; Gastric cancer; Malignant tumor of esophagus | germline | 2 | May 16, 2025 | clinvar |