ASPM p.Arg601fs
c.1801del · rs2125113678 · VCV1385962
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 3 of 28 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.4 | GERP 1, 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
- ASPM
- Protein
- p.Arg601fs
- Coding
- c.1801del
- MANE Select
- NM_018136
- dbSNP
- rs2125113678
- Type
- Deletion
- Location
- chr1:197142451 (GRCh38)
- Gene constraint
- LOEUF 0.766 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Similar variants
- ASPM p.Arg601Ile Uncertain significance ★★ ⚠ same residue
- ASPM p.Ala3113fs Pathogenic ★★ same type
- ASPM p.Arg2005fs Pathogenic ★★ same type
- ASPM p.Asn1095fs Likely pathogenic ★★ same type
- ASPM p.Asn3136fs Likely pathogenic ★★ same type
- ASPM p.Asn324fs Pathogenic/Likely pathogenic ★★ same type
- ASPM p.Asn394fs Pathogenic ★★ same type
- ASPM p.Asp1285fs 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/aspm-p-arg601fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown