EGFR p.Glu634fs
c.1896del · VCV4718564
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
EGFR-related lung cancer
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 LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 16 of 28 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 8.6 | GERP 2.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- EGFR
- Protein
- p.Glu634fs
- Coding
- c.1896del
- MANE Select
- NM_005228
- Type
- Deletion
- Location
- chr7:55171190 (GRCh38)
- Gene constraint
- LOEUF 0.475 · pLI 0.98 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 76.29 · 393 PDB
- Residue 634
- an α-helix; a disulfide bond
Similar variants
- EGFR p.Glu634Ala Uncertain significance ★★ ⚠ same residue
- EGFR p.Leu12_Leu18del Uncertain significance ★★ same condition
- EGFR c.2181_2184+7del Likely pathogenic ★ same condition
- EGFR c.2555_2626-421del Likely pathogenic ★ same condition
- EGFR c.628+1del Likely pathogenic ★ same condition
- EGFR p.Ala147fs Pathogenic ★ same condition
- EGFR p.Arg297fs Pathogenic ★ same condition
- EGFR p.Asn473fs 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/egfr-p-glu634fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown