CREBBP p.Val504fs
c.1511_1517del · VCV3256573
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 6 of 31 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5 | GERP 1.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- CREBBP
- Protein
- p.Val504fs
- Coding
- c.1511_1517del
- MANE Select
- NM_004380
- Type
- Deletion
- Location
- chr16:3782740 (GRCh38)
- Gene constraint
- LOEUF 0.101 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 54.31 · 144 PDB
Similar variants
- CREBBP c.3369+1del Pathogenic ★★ same condition
- CREBBP p.Ala403fs Likely pathogenic ★★ same condition
- CREBBP p.Glu1034fs Pathogenic ★★ same condition
- CREBBP p.Glu1551fs Pathogenic ★★ same condition
- CREBBP p.Glu1560fs Pathogenic ★★ same condition
- CREBBP p.Pro1946fs Pathogenic/Likely pathogenic ★★ same condition
- CREBBP p.Ser1898fs Pathogenic/Likely pathogenic ★★ same condition
- CREBBP p.Pro1077del Uncertain significance ★★ 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/crebbp-p-val504fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown