Variant · Snv
EP300 NM_001429.4(EP300):c.772A>G (p.Thr258Ala)
CI-VAR-00294670Explore in graph →p.Thr258AlaNM_001429.4:c.772A>GClinVar 2393470 rs201804130
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 |
|---|---|---|---|---|---|---|---|---|
| 2393470 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Inborn genetic diseases; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; EP300-related disorder; Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 2; Colorectal cancer | germline | 5 | May 05, 2025 | clinvar |