DYSF c.1642del
Pathogenic
Multiple submitters
Classification
Pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
2
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 9.2 | GERP 1.7, phastCons 1 |
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.1642del
- MANE Select
- NM_001130987 · reported on NM_003494
- dbSNP
- rs398123772
- Type
- Deletion
- Location
- chr2:71551606 (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.Glu1143fs Pathogenic ★★★ same condition
- DYSF p.Glu1663fs Pathogenic ★★★ same condition
- DYSF p.Glu1766fs 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-1642del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown