ARSB c.690+9del
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
mucopolysaccharidosis type 6
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +9 | near-intronic (+9 nt from the splice site) |
|---|---|---|
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.044 | GERP -1.9 |
| Non-coding constraint | Z 1.28 | 1 kb window · o/e 0.90 · regional · uncalibrated |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- ARSB
- Coding
- c.690+9del
- MANE Select
- NM_020427 · reported on NM_000046
- dbSNP
- rs2112513488
- Type
- Deletion
- Location
- chr5:78964407 (GRCh38)
- Structure
- AlphaFold pLDDT 84.32 · 2 PDB
Disease context
mucopolysaccharidosis type 6 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Mucopolysaccharidosis type 6 (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Childhood
- Prevalence
- 1-9 / 1 000 000 (Europe)
Similar variants
- ARSB p.Ala39fs Pathogenic ★★ same condition
- ARSB p.Gly38fs Pathogenic/Likely pathogenic ★★ same condition
- ARSB p.Gly40fs Pathogenic/Likely pathogenic ★★ same condition
- ARSB p.Leu354fs Pathogenic/Likely pathogenic ★★ same condition
- ARSB p.Pro248fs Pathogenic ★★ same condition
- ARSB p.Ser37fs Pathogenic/Likely pathogenic ★★ same condition
- ARSB p.Thr526fs Pathogenic ★★ same condition
- ARSB p.Val143fs 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/arsb-c-690-plus-9del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown