ASPH p.Ile497fs
c.1490del · VCV4900677
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
ASPH-related disorder
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 19 of 25 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 4.5 | GERP 2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ASPH
- Protein
- p.Ile497fs
- Coding
- c.1490del
- MANE Select
- NM_004318
- Type
- Deletion
- Location
- chr8:61555970 (GRCh38)
- Gene constraint
- LOEUF 1.011 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 72.34 · 43 PDB
- Residue 497
- an α-helix
Disease context
ASPH-related disorder
Similar variants
- ASPH p.Arg735Trp Likely pathogenic ★★ same condition
- ASPH p.Arg735Gln Likely pathogenic ★ same condition
- ASPH c.322+12710_322+12711insGAC Likely benign same condition
- ASPH c.322+4786GAA[5] Likely benign same condition
- ASPH c.791-5_791-3dup Likely benign same condition
- ASPH c.977-8T>C Likely benign same condition
- ASPH p.Asp194Asn Likely benign same condition
- ASPH p.His160= Likely benign 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/asph-p-ile497fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown