ASPM p.Ser40fs
c.117del · VCV4586656
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 1 of 28 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.24 | GERP -2.8 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ASPM
- Protein
- p.Ser40fs
- Coding
- c.117del
- MANE Select
- NM_018136
- Type
- Deletion
- Location
- chr1:197146321 (GRCh38)
- Gene constraint
- LOEUF 0.766 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Similar variants
- ASPM p.Lys1528fs Pathogenic ★★ same condition
- ASPM p.Lys2595fs Pathogenic ★★ same condition
- ASPM p.Thr2499fs Pathogenic/Likely pathogenic ★★ same condition
- ASPM p.Tyr2527_Arg2529delinsTer Pathogenic ★★ same condition
- ASPM p.Lys616del Uncertain significance ★★ same condition
- ASPM p.Arg2281fs Pathogenic ★ same condition
- ASPM p.Gln2051fs Pathogenic ★ same condition
- ASPM p.Pro20fs 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/aspm-p-ser40fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown