EYS p.Asp893fs
c.2678_2681del · VCV4892652
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
EYS-related disorder
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 17 of 43 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.073 | |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- EYS
- Protein
- p.Asp893fs
- Coding
- c.2678_2681del
- MANE Select
- NM_001142800
- Type
- Deletion
- Location
- chr6:64902461 (GRCh38)
- Gene constraint
- LOEUF 0.96 · pLI <0.01 (gnomAD)
- Residue 893
- the egf-like 13 domain
Disease context
EYS-related disorder
Similar variants
- EYS p.Ala2957fs Pathogenic/Likely pathogenic ★★ same condition
- EYS p.Asn1773_Val1781delinsLys Pathogenic/Likely pathogenic ★★ same condition
- EYS p.Asn2918fs Pathogenic/Likely pathogenic ★★ same condition
- EYS p.Asn328fs Pathogenic/Likely pathogenic ★★ same condition
- EYS p.Cys412fs Pathogenic/Likely pathogenic ★★ same condition
- EYS p.Cys78fs Pathogenic ★★ same condition
- EYS p.Gln2723fs Pathogenic/Likely pathogenic ★★ same condition
- EYS p.Gln3053fs Pathogenic/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/eys-p-asp893fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown