DMD p.Ala3118fs
c.9349_9352dup · VCV4732765
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Duchenne muscular dystrophy
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 64 of 79 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 3.4, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DMD
- Protein
- p.Ala3118fs
- Coding
- c.9349_9352dup
- MANE Select
- NM_004006
- Type
- Duplication
- Location
- chrX:31223055 (GRCh38)
- Residue 3118
- an α-helix; the 'interaction with synm' region
Disease context
Duchenne muscular dystrophy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Duchenne muscular dystrophy (Orphanet):
- Inheritance
- X-linked recessive
- Onset
- Childhood
- Prevalence
- 1-9 / 100 000 (Worldwide)
Similar variants
- DMD p.Ala3118Ser Conflicting classifications of pathogenicity ★ ⚠ same residue
- DMD p.Ala3118Thr Conflicting classifications of pathogenicity ★ same residue
- DMD p.Ala3118= Likely benign ★ same residue
- DMD c.10224-1dup Pathogenic ★★ same condition
- DMD c.3603+2dup Pathogenic ★★ same condition
- DMD c.9649+2dup Likely pathogenic ★★ same condition
- DMD p.Ala1872fs Pathogenic ★★ same condition
- DMD p.Asn1820fs 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-ala3118fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown