ASPM p.Ala1950=
c.5850G>A · rs537962201 · VCV737961
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0648%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -12 | GERP -3.1 |
| Overall | ||
| CADD | 0.102 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0648%
South Asian · 59/91,068 alleles
Filtering AF
0.0515%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0467%
Overall
0.00552%
89/1,613,224 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0648% | 1,544 |
| Remaining individualsnot grpmax-eligible | 0.0128% | 7,808 |
| East Asian | 0.00446% | 22,424 |
| Admixed American | 0.00167% | 59,880 |
| European (non-Finnish) | 0.00161% | 62,078 |
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.Ala1950=
- Coding
- c.5850G>A
- MANE Select
- NM_018136
- dbSNP
- rs537962201
- Type
- single nucleotide variant
- Location
- chr1:197103401 (GRCh38)
- Gene constraint
- LOEUF 0.766 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Residue 1950
- the iq 12 domain
Similar variants
- ASPM p.Ala1950Val Uncertain significance ★★ same residue
- ASPM c.2419+2T>C Pathogenic/Likely pathogenic ★★ same type
- ASPM c.2488-1G>C Pathogenic/Likely pathogenic ★★ same type
- ASPM c.2936+5G>A Likely pathogenic ★★ same type
- ASPM c.3082+1G>C Pathogenic/Likely pathogenic ★★ same type
- ASPM c.9084+5G>A Likely pathogenic ★★ same type
- ASPM p.Arg1019Ter Pathogenic ★★ same type
- ASPM p.Arg1271Ter 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-ala1950 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown