Is EP300 p.Thr482Pro (c.1443_1444delinsAC) pathogenic?

EP300 p.Thr482Pro (c.14431444delinsAC) is classified Uncertain significance in EP300 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-02-03). No gnomAD frequency available for this variant; Associated with Rubinstein-Taybi syndrome due to EP300 haploinsufficiency.

What condition is associated with EP300 p.Thr482Pro (c.1443_1444delinsAC)?

EP300 p.Thr482Pro (c.1443_1444delinsAC) is associated with Rubinstein-Taybi syndrome due to EP300 haploinsufficiency (ClinVar).

How common is EP300 p.Thr482Pro (c.1443_1444delinsAC) in the general population?

EP300 p.Thr482Pro (c.1443_1444delinsAC) is no gnomAD frequency available for this variant (gnomAD).

EP300 p.Thr482Pro

c.1443_1444delinsAC · rs2518134890 · VCV2035583

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -3.2	GERP -5.9
Regional constraint	o/e 1.19	unconstrained · MANE · 7,764 bp · p 0.0081 · regional, not allelic

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: EP300
Protein: p.Thr482Pro
Coding: c.1443_1444delinsAC
MANE Select: NM_001429
dbSNP: rs2518134890
Type: Indel
Location: chr22:41131548 (GRCh38)
Gene constraint: LOEUF 0.164 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 54.88 · 60 PDB
Residue 482: the 'disordered' region

Full EP300 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

EP300 c.4452+20_4452+21delinsTT Uncertain significance ★ same condition
EP300 p.Ser150Leu Uncertain significance ★ same condition
EP300 c.4618-18_4618-17delinsTC Benign ★ same condition
EP300 p.Ala536_Ile537delinsTyrValGluProTer Pathogenic same condition
EP300 p.Val1475_Ser1476delinsTer Likely pathogenic same condition
EP300 c.1282+1G>A Pathogenic/Likely pathogenic ★★ same condition
EP300 c.3671+1G>A Pathogenic/Likely pathogenic ★★ same condition
EP300 c.3729-2A>G Pathogenic/Likely pathogenic ★★ 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-thr482pro (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown