DYSF c.94del
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
neuromuscular disease caused by qualitative or quantitative defects of dysferlin
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 11 | GERP 1.5, phastCons 1 |
| Non-coding constraint | Z 0.41 | 1 kb window · o/e 0.97 · regional · uncalibrated |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- DYSF
- Coding
- c.94del
- MANE Select
- NM_001130987
- dbSNP
- rs2467168010
- Type
- Deletion
- Location
- chr2:71480882 (GRCh38)
- Gene constraint
- LOEUF 0.836 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.25 · 11 PDB
Similar variants
- DYSF c.951+1del Pathogenic ★★★ same condition
- DYSF p.Ala927Leufs Pathogenic ★★★ same condition
- DYSF p.Asp1181fs Pathogenic ★★★ same condition
- DYSF p.Asp1255fs Pathogenic ★★★ same condition
- DYSF p.Gln1985fs Pathogenic ★★★ same condition
- DYSF p.Glu1766fs Pathogenic ★★★ same condition
- DYSF p.Gly1904fs Pathogenic ★★★ same condition
- DYSF p.His711fs 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/dysf-c-94del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown