GAA p.Ser686Pro
c.2056_2057delinsCC · VCV4876262
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
glycogen storage disease II
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.2 | GERP -2.6, phastCons 0.003 |
| Regional constraint | o/e 1.03 | unconstrained · MANE · 15 kb · p 0.22 · regional, not allelic |
Variant & gene context
- Gene
- GAA
- Protein
- p.Ser686Pro
- Coding
- c.2056_2057delinsCC
- MANE Select
- NM_000152
- Type
- Indel
- Location
- chr17:80113233 (GRCh38)
- Gene constraint
- LOEUF 1.008 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.32 · 19 PDB
- Residue 686
- an α-helix
Disease context
glycogen storage disease II — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Glycogen storage disease due to acid maltase deficiency (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adolescent, Adult, Antenatal, Childhood, Infancy, Neonatal
- Prevalence
- 1-9 / 1 000 000 (Europe)
Similar variants
- GAA p.Ser686Lys Uncertain significance ★ same residue
- GAA p.Ala761fs Pathogenic ★★★ same condition
- GAA p.Asn535fs Likely pathogenic ★★★ same condition
- GAA p.Ser529Val Likely pathogenic ★★★ same condition
- GAA p.Trp376fs Pathogenic ★★★ same condition
- GAA p.Tyr256fs Pathogenic ★★★ same condition
- GAA p.Val723_Leu727delinsCysAspValVal Pathogenic ★★★ same condition
- GAA p.Leu267fs Pathogenic/Likely 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/gaa-p-ser686pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown