EP300 p.Ser848fs
c.2540dup · rs1569107391 · VCV598616
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 14 of 31 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.6 | GERP -4.3, phastCons 0.037 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- EP300
- Protein
- p.Ser848fs
- Coding
- c.2540dup
- MANE Select
- NM_001429
- dbSNP
- rs1569107391
- Type
- Duplication
- Location
- chr22:41149916 (GRCh38)
- Gene constraint
- LOEUF 0.164 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 54.88 · 60 PDB
- Residue 848
- the 'disordered' region
Similar variants
- EP300 p.Asn1236fs Pathogenic ★★ same type
- EP300 p.Asn779fs Pathogenic ★★ same type
- EP300 p.His2324fs Pathogenic/Likely pathogenic ★★ same type
- EP300 p.Pro1961fs Pathogenic/Likely pathogenic ★★ same type
- EP300 p.Val2036fs Pathogenic/Likely pathogenic ★★ same type
- EP300 p.Asn2357_Ala2365dup Uncertain significance ★★ same type
- EP300 p.Gln2153_Leu2154insProGlnGlnGln Uncertain significance ★★ same type
- EP300 p.Gln2155_Pro2156insGlnGlnLeuGln Uncertain significance ★★ same type
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-ser848fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown