AGA p.Asp70fs
c.210del · rs1736955435 · VCV956675
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 2 of 9 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.3 | GERP 0.21, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
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
- AGA
- Protein
- p.Asp70fs
- Coding
- c.210del
- MANE Select
- NM_000027
- dbSNP
- rs1736955435
- Type
- Deletion
- Location
- chr4:177440344 (GRCh38)
- Gene constraint
- LOEUF 0.938 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 91.41 · 2 PDB
- Residue 70
- an α-helix
Disease context
aspartylglucosaminuria — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Aspartylglucosaminuria (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Childhood
- Prevalence
- 1-9 / 1 000 000 (Australia)
Similar variants
- AGA p.Asp70= Likely benign ★★ same residue
- AGA p.Ala19fs Pathogenic ★★ same condition
- AGA p.Asn110fs Pathogenic/Likely pathogenic ★★ same condition
- AGA p.Cys64fs Pathogenic/Likely pathogenic ★★ same condition
- AGA p.Glu199fs Likely pathogenic ★★ same condition
- AGA p.Ile112fs Pathogenic/Likely pathogenic ★★ same condition
- AGA p.Lys288_Val289insTer Pathogenic/Likely pathogenic ★★ same condition
- AGA p.Thr123fs 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/aga-p-asp70fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown