DMD p.Gln421fs
c.1262_1263insC · VCV3722255
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 11 of 79 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.65 | GERP -3.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DMD
- Protein
- p.Gln421fs
- Coding
- c.1262_1263insC
- MANE Select
- NM_004006
- Type
- Insertion
- Location
- chrX:32644200 (GRCh38)
- Residue 421
- an α-helix
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.Gln421Ter Pathogenic ★★ same residue
- DMD p.Gln421Lys Uncertain significance ★ ⚠ same residue
- DMD p.Gln421Pro Uncertain significance ★ ⚠ same residue
- DMD p.Gln421= Likely benign ★ same residue
- DMD p.Gln421Glu Likely benign ★ same residue
- DMD p.Ile245fs Pathogenic ★★ same condition
- DMD p.Ala3421delinsPhePhePhePhePhePheXaaXaaXaaXaaPheHisLysAlaSerIleValIleLeuAlaArgSerGlnTer Pathogenic ★ same condition
- DMD p.Arg3345fs 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-gln421fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown