ERF p.His227fs
c.679dup · VCV4618797
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (4 of 4) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 6.3 | GERP 0.91, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ERF
- Protein
- p.His227fs
- Coding
- c.679dup
- MANE Select
- NM_006494
- Type
- Duplication
- Location
- chr19:42249432 (GRCh38)
- Gene constraint
- LOEUF 0.443 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 55.46 · 2 PDB
Similar variants
- ERF c.17_22+10dup Uncertain significance ★ same condition
- ERF p.Arg143fs Pathogenic/Likely pathogenic ★★ same condition
- ERF p.Gln263Ter Pathogenic ★★ same condition
- ERF p.Ala462Pro Uncertain significance ★★ ⚠ same condition
- ERF p.Arg179His Uncertain significance ★★ ⚠ same condition
- ERF p.Arg233Gln Uncertain significance ★★ ⚠ same condition
- ERF p.Arg312Gln Uncertain significance ★★ ⚠ same condition
- ERF p.Arg546Ter Uncertain significance ★★ 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/erf-p-his227fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown