ENG c.1687delG
Pathogenic
Multiple submitters
Classification
Pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
very rare (popmax 0.000169%, nfe)
Conditions
2
ENG-related disorder
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 0.81 | GERP 0.5, phastCons 0.59 |
| Non-coding constraint | Z 1.41 | 1 kb window · o/e 0.85 · regional · uncalibrated |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000169%
European (non-Finnish) · 2/1,180,032 alleles
Filtering AF
2.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000137%
2/1,461,866 alleles · very rare
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
- ENG
- Coding
- c.1687delG
- MANE Select
- NM_001114753 · reported on NM_000118
- dbSNP
- rs1564452075
- Type
- Deletion
- Location
- chr9:127817203 (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.Ala55fs Pathogenic ★★ same condition
- ENG p.Arg232_Thr233del Likely pathogenic ★★ same condition
- ENG p.Arg399fs Pathogenic/Likely pathogenic ★★ same condition
- ENG p.Asn163fs Pathogenic/Likely pathogenic ★★ same condition
- ENG p.Asn423fs Pathogenic ★★ same condition
- ENG p.Asp578fs Pathogenic/Likely pathogenic ★★ same condition
- ENG p.Cys493fs Pathogenic ★★ same condition
- ENG p.Gln33fs 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-1687delg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown