ENG c.68delG
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Cardiovascular phenotype
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 3.1 | GERP 1.2, phastCons 1 |
Variant & gene context
- Gene
- ENG
- Coding
- c.68delG
- MANE Select
- NM_001114753
- Type
- Deletion
- Location
- chr9:127843245 (GRCh38)
- Gene constraint
- LOEUF 0.374 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 80.84 · 3 PDB
Similar variants
- ENG p.Arg232_Thr233del Likely pathogenic ★★ same condition
- ENG p.Asp578fs Pathogenic/Likely pathogenic ★★ same condition
- ENG p.Gln33fs Pathogenic ★★ same condition
- ENG p.Gly413fs Pathogenic ★★ same condition
- ENG p.Gly514fs Pathogenic ★★ same condition
- ENG p.Ile263del Pathogenic/Likely pathogenic ★★ same condition
- ENG p.Leu299fs Pathogenic/Likely pathogenic ★★ same condition
- ENG p.Leu519fs 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/eng-c-68delg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown