Variant · Snv
CC2D2A NM_001378615.1(CC2D2A):c.4186A>G (p.Thr1396Ala)
CI-VAR-00274905Explore in graph →p.Thr1396AlaNM_001378615.1:c.4186A>GClinVar 2194044 rs759303901
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 |
|---|---|---|---|---|---|---|---|---|
| 2194044 | Uncertain significance | criteria provided, multiple submitters, no conflicts | 2 | Joubert syndrome; Meckel-Gruber syndrome; Inborn genetic diseases; COACH syndrome 2; Retinitis pigmentosa 93; Joubert syndrome 9; Meckel syndrome, type 6; Gastric cancer | germline | 4 | Oct 24, 2024 | clinvar |