DMD p.Glu1276=
c.3828G>A · VCV4066526
Uncertain significance
No assertion criteria
Classification
Uncertain significance
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.4 | GERP -1.3, phastCons 1 |
| Overall | ||
| CADD | 7.348 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- DMD
- Protein
- p.Glu1276=
- Coding
- c.3828G>A
- MANE Select
- NM_004006
- Type
- single nucleotide variant
- Location
- chrX:32441273 (GRCh38)
Disease context
Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency
Similar variants
- DMD p.Glu1276Ter Likely pathogenic ★ same residue
- DMD p.Glu1276Lys Uncertain significance ★ ⚠ same residue
- DMD c.10223+1G>A Pathogenic ★★ same condition
- DMD c.10224-2A>G Likely pathogenic ★★ same condition
- DMD c.10797+1G>A Pathogenic ★★ same condition
- DMD c.1150-1G>A Pathogenic ★★ same condition
- DMD c.1483-1G>A Likely pathogenic ★★ same condition
- DMD c.1603-2A>C Pathogenic/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-glu1276 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown