EP300 p.Ser50fs
c.147_156del · VCV3602753
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Rubinstein-Taybi syndrome due to CREBBP mutations
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 31 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4 | GERP 0.58, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- EP300
- Protein
- p.Ser50fs
- Coding
- c.147_156del
- MANE Select
- NM_001429
- Type
- Deletion
- Location
- chr22:41117237 (GRCh38)
- Gene constraint
- LOEUF 0.164 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 54.88 · 60 PDB
- Residue 50
- the 'interaction with alx1' region; the 'interaction with rora' region
Similar variants
- EP300 p.His2338_Pro2342del Uncertain significance ★★ same condition
- EP300 p.Gln2268del Benign/Likely benign ★★ same condition
- EP300 p.Ser50Pro Uncertain significance ★ same residue
- EP300 p.Gln2005fs Likely pathogenic same condition
- EP300 p.Asn1236fs Pathogenic ★★ same condition
- EP300 p.Ser35fs Pathogenic/Likely pathogenic ★★ same condition
- EP300 p.Gln2153_Leu2154insProGlnGlnGln Uncertain significance ★★ same condition
- EP300 c.2380-18T>C Benign/Likely benign ★★ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/ep300-p-ser50fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown