DMD p.Trp1249fs
c.3743dup · VCV4815306
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
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 27 of 79 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.35 | GERP -2.2, phastCons 0.99 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DMD
- Protein
- p.Trp1249fs
- Coding
- c.3743dup
- MANE Select
- NM_004006
- Type
- Duplication
- Location
- chrX:32448498 (GRCh38)
Disease context
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
Similar variants
- DMD p.Ser3420fs Pathogenic ★★ same condition
- DMD p.Trp1249Ter Pathogenic ★★ same residue
- DMD p.Ala3270fs Likely pathogenic ★ same condition
- DMD p.Ala608fs Likely pathogenic ★ same condition
- DMD p.Arg3300fs Likely pathogenic ★ same condition
- DMD p.Asp46fs Likely pathogenic ★ same condition
- DMD p.Glu1798fs Likely pathogenic ★ same condition
- DMD p.Glu336fs 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/dmd-p-trp1249fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown