DMD c.1152del
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 9.3 | GERP 2.3, phastCons 1 |
| Non-coding constraint | — | not assessed · autosomes only, so chrX has no window · absence ≠ unconstrained |
Variant & gene context
Full DMD gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & moreSimilar variants
- DMD c.1813-29_1813-2del Likely pathogenic ★★ same type
- DMD c.2804-1del Pathogenic ★★ same type
- DMD c.3276+2del Pathogenic/Likely pathogenic ★★ same type
- DMD c.3433-5_3434del Pathogenic ★★ same type
- DMD c.4519-2_4523del Pathogenic ★★ same type
- DMD c.6438+1_6438+5del Pathogenic ★★ same type
- DMD c.9650-4_9655del Likely pathogenic ★★ same type
- DMD p.Ala192fs Pathogenic ★★ same type
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-c-1152del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown