DYSF p.Glu802=
c.2406G>A · rs2545754105 · VCV3042859
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0011%, sas)
Conditions
1
DYSF-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -3.1 | GERP -4 |
| Overall | ||
| CADD | 0.676 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0011%
South Asian · 1/90,982 alleles
Overall
0.000137%
2/1,461,262 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0011% | 90,982 |
| European (non-Finnish) | 8.48e-05% | 1,179,848 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- DYSF
- Protein
- p.Glu802=
- Coding
- c.2406G>A
- MANE Select
- NM_001130987
- dbSNP
- rs2545754105
- Type
- single nucleotide variant
- Location
- chr2:71561941 (GRCh38)
- Gene constraint
- LOEUF 0.836 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.25 · 11 PDB
- Residue 802
- a β-strand
Disease context
DYSF-related disorder
Similar variants
- DYSF p.Glu802Lys Uncertain significance ★★ ⚠ same residue
- DYSF c.1380+2T>C Pathogenic ★★ same condition
- DYSF p.Gln1341Ter Pathogenic ★★ same condition
- DYSF p.Gln1734Ter Pathogenic/Likely pathogenic ★★ same condition
- DYSF p.Gln850Ter Pathogenic ★★ same condition
- DYSF p.Trp1517Ter Pathogenic ★★ same condition
- DYSF p.Thr1122Met Uncertain significance ★★ ⚠ same condition
- DYSF c.5785-2A>T 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/dysf-p-glu802 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown