ELANE p.Ala236fs
c.706del · VCV4939522
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
ELANE-related disorders
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon in the last exon (5 of 5) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.7 | GERP 1.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ELANE
- Protein
- p.Ala236fs
- Coding
- c.706del
- MANE Select
- NM_001972
- Type
- Deletion
- Location
- chr19:856065 (GRCh38)
- Gene constraint
- LOEUF 1.245 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 88.42 · 38 PDB
- Residue 236
- an α-helix; the peptidase s1 domain
Disease context
ELANE-related disorders
Similar variants
- ELANE p.Ala236= Likely benign ★ same residue
- ELANE c.597+1G>T Pathogenic ★★ same condition
- ELANE p.Ala61Val Pathogenic/Likely pathogenic ★★ ⚠ same condition
- ELANE p.Arg103Leu Likely pathogenic ★★ ⚠ same condition
- ELANE p.Arg220Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
- ELANE p.Gly214Arg Pathogenic ★★ same condition
- ELANE p.Leu84Pro Pathogenic/Likely pathogenic ★★ same condition
- ELANE p.Met1Val 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/elane-p-ala236fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown