ASPM p.Val269fs
c.804del · rs587783277 · VCV977851
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
ultra-rare (gnomAD MAF 1.241e-06)
Conditions
1
microcephaly 5, primary, autosomal recessive
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 0.59 | GERP 0.79, phastCons 0.001 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
dbSNP / gnomAD
Global frequency
0.000124%
via dbSNP · ultra-rare
No ancestry breakdown or filtering allele frequency is available for this variant, so BA1/BS1 cannot be assessed from this figure alone.
Variant & gene context
- Gene
- ASPM
- Protein
- p.Val269fs
- Coding
- c.804del
- MANE Select
- NM_018136
- dbSNP
- rs587783277
- Type
- Deletion
- Location
- chr1:197143448 (GRCh38)
- Gene constraint
- LOEUF 0.766 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Similar variants
- ASPM p.Arg2005fs Pathogenic ★★ same condition
- ASPM p.Asn1095fs Likely pathogenic ★★ same condition
- ASPM p.Asn324fs Pathogenic/Likely pathogenic ★★ same condition
- ASPM p.Asn394fs Pathogenic ★★ same condition
- ASPM p.Asp1285fs Pathogenic/Likely pathogenic ★★ same condition
- ASPM p.Asp990fs Pathogenic ★★ same condition
- ASPM p.Gln2904fs Pathogenic ★★ same condition
- ASPM p.Glu2731fs 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-val269fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown