EGF p.Cys421fs
c.1262del · VCV3690167
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 8 of 24 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.7 | GERP 0.87, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- EGF
- Protein
- p.Cys421fs
- Coding
- c.1262del
- MANE Select
- NM_001963
- Type
- Deletion
- Location
- chr4:109961935 (GRCh38)
- Gene constraint
- LOEUF 0.741 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.66 · 13 PDB
- Residue 421
- the egf-like 3 domain; a disulfide bond
Similar variants
- EGF c.1066+7_1066+30del Uncertain significance ★ same type
- EGF p.Asn84del Uncertain significance ★ same type
- EGF p.Met1fs Uncertain significance ★ same type
- EGF p.Ser1152_Ser1156del Uncertain significance ★ same type
- EGF p.Ser455fs Uncertain significance ★ same type
- EGF p.Ser490fs Uncertain significance ★ same type
- EGF p.Ser589del Uncertain significance ★ same type
- EGF p.Val118fs Uncertain significance ★ same type
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/egf-p-cys421fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown