DMD c.960+1del
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
canonical splice-site (±1/±2)
predicted LoF
gnomAD v4.1
Rare
Conditions
1
neuromuscular disease caused by qualitative or quantitative defects of dystrophin
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | canonical splice-site (±1/±2) | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| Splicing | ||
| Splice region | donor +1 | canonical splice dinucleotide (donor +1) · inside the BP7-excluded zone |
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 2, phastCons 1 |
| Non-coding constraint | — | not assessed · autosomes only, so chrX has no window · absence ≠ unconstrained |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
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 condition
- DMD p.Asp652fs Pathogenic/Likely pathogenic ★★ same condition
- DMD p.Gln1501fs Pathogenic/Likely pathogenic ★★ same condition
- DMD p.Glu2733fs Pathogenic/Likely pathogenic ★★ same condition
- DMD p.Leu1702fs Pathogenic/Likely pathogenic ★★ same condition
- DMD p.Leu2866fs Pathogenic/Likely pathogenic ★★ same condition
- DMD p.Val2159fs Pathogenic/Likely pathogenic ★★ same condition
- DMD c.10225_10229delCCCGT 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-c-960-plus-1del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown