ASPM p.Phe773fs
c.2316_2319del · rs2527377406 · VCV2070730
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 6 of 28 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.1 | GERP 1.7, 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.Phe773fs
- Coding
- c.2316_2319del
- MANE Select
- NM_018136
- dbSNP
- rs2527377406
- Type
- Microsatellite
- Location
- chr1:197133450 (GRCh38)
- Gene constraint
- LOEUF 0.766 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Similar variants
- ASPM p.Arg1315fs Pathogenic ★★ same type
- ASPM p.Arg1416_Tyr1417insTer Pathogenic ★★ same type
- ASPM p.Arg1576fs Pathogenic/Likely pathogenic ★★ same type
- ASPM p.Arg2229fs Pathogenic ★★ same type
- ASPM p.Asn653fs Pathogenic ★★ same type
- ASPM p.Gln2836fs Pathogenic/Likely pathogenic ★★ same type
- ASPM p.Glu385fs Pathogenic ★★ same type
- ASPM p.Ile2113fs 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-phe773fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown