HELLS p.Glu239fs
c.715del · VCV4725477
Pathogenic
Single submitter
Classification
Pathogenic
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 9 of 22 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 2.3, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- HELLS
- Protein
- p.Glu239fs
- Coding
- c.715del
- MANE Select
- NM_018063
- Type
- Deletion
- Location
- chr10:94574561 (GRCh38)
- Gene constraint
- LOEUF 0.587 · pLI 0.63 (gnomAD)
- Structure
- AlphaFold pLDDT 68.76 · 4 PDB
- Residue 239
- the helicase atp-binding domain
Similar variants
- HELLS p.Arg129fs Pathogenic ★ same type
- HELLS p.Ser164_Ser165insTer Likely pathogenic ★ same type
- HELLS p.Glu157del Uncertain significance ★ same type
- HELLS p.Lys156del Uncertain significance ★ same type
- HELLS c.1033-5del Benign ★ same type
- HELLS c.1767+18_1767+23del Likely benign ★ same type
- HELLS c.1768-6_1768-4del Likely benign ★ same type
- HELLS c.1851+11del Benign ★ 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/hells-p-glu239fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown