HELLS c.333+15del
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +15 | near-intronic (+15 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.036 | GERP -2.7 |
| Non-coding constraint | Z -0.69 | 1 kb window · o/e 1.05 · regional · uncalibrated |
Variant & gene context
- Gene
- HELLS
- Coding
- c.333+15del
- MANE Select
- NM_018063
- Type
- Deletion
- Location
- chr10:94558209 (GRCh38)
- Gene constraint
- LOEUF 0.587 · pLI 0.63 (gnomAD)
- Structure
- AlphaFold pLDDT 68.76 · 4 PDB
Similar variants
- HELLS p.Arg129fs Pathogenic ★ same type
- HELLS p.Glu239fs 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
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-c-333-plus-15del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown