DMD p.Glu1133fs
c.3396dup · VCV3768656
Pathogenic/Likely pathogenic
Multiple submitters
Classification
Pathogenic/Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
neuromuscular disease caused by qualitative or quantitative defects of dystrophin
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 25 of 79 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.9 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DMD
- Protein
- p.Glu1133fs
- Coding
- c.3396dup
- MANE Select
- NM_004006
- Type
- Duplication
- Location
- chrX:32463474 (GRCh38)
Similar variants
- DMD p.Ser572Ter Pathogenic ★★ same condition
- DMD p.Val516fs Pathogenic/Likely pathogenic ★★ same condition
- DMD c.31+2dup Uncertain significance ★★ same condition
- DMD c.(7542+1_7543-1 Pathogenic ★ same condition
- DMD p.Ala1124fs Pathogenic ★ same condition
- DMD p.Trp954fs Pathogenic ★ same condition
- DMD p.Glu1133Asp Uncertain significance ★ ⚠ same residue
- DMD c.10223+1G>A 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/dmd-p-glu1133fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown