ASNS p.Pro510del
c.1528_1530del · VCV3766247
Uncertain significance
Single submitter
Classification
Uncertain significance
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 | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 3.5 | GERP 0.74, phastCons 1 |
| Region caveats | ||
| Repeat context | seg dup | · reads may not map uniquely · confidence, not pathogenicity |
Variant & gene context
- Gene
- ASNS
- Protein
- p.Pro510del
- Coding
- c.1528_1530del
- MANE Select
- NM_001673
- Type
- Deletion
- Location
- chr7:97852415 (GRCh38)
- Gene constraint
- LOEUF 0.745 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.36 · 3 PDB
- Residue 510
- the asparagine synthetase domain
Similar variants
- ASNS p.Pro510= Likely benign ★ same residue
- ASNS c.1137+200_1137+205del Likely pathogenic ★★ same type
- ASNS c.1239-1del Likely pathogenic ★★ same type
- ASNS c.904-3_904-1del Likely pathogenic ★★ same type
- ASNS p.Arg236fs Pathogenic/Likely pathogenic ★★ same type
- ASNS p.Asn456fs Pathogenic/Likely pathogenic ★★ same type
- ASNS p.Glu160fs Pathogenic/Likely pathogenic ★★ same type
- ASNS p.Leu181fs Pathogenic/Likely pathogenic ★★ 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/asns-p-pro510del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown