DYSF p.Phe300fs
c.900del · VCV4815159
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
autosomal recessive limb-girdle muscular dystrophy type 2B
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 9 of 56 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 1.6, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- DYSF
- Protein
- p.Phe300fs
- Coding
- c.900del
- MANE Select
- NM_001130987
- Type
- Deletion
- Location
- chr2:71516191 (GRCh38)
- Gene constraint
- LOEUF 0.836 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.25 · 11 PDB
- Residue 300
- a β-strand; the c2 2 domain
Disease context
autosomal recessive limb-girdle muscular dystrophy type 2B — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Dysferlin-related limb-girdle muscular dystrophy R2 (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adolescent, Adult
- Prevalence
- 1-9 / 1 000 000 (United Kingdom)
Similar variants
- DYSF c.951+1del Pathogenic ★★★ same condition
- DYSF p.Ala927Leufs Pathogenic ★★★ same condition
- DYSF p.Asp1255fs Pathogenic ★★★ same condition
- DYSF p.Gln1985fs Pathogenic ★★★ same condition
- DYSF p.Glu1663fs Pathogenic ★★★ same condition
- DYSF p.Gly1904fs Pathogenic ★★★ same condition
- DYSF p.Lys37fs Pathogenic ★★★ same condition
- DYSF p.Phe1713fs 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-p-phe300fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown