ASNS p.Pro294=
c.882C>T · rs748677332 · VCV752192
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00439%, 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 -9.3 | GERP -3.1 |
| Overall | ||
| CADD | 0.272 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00439%
South Asian · 4/91,038 alleles
Filtering AF
0.00143%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000891%
Overall
0.00112%
18/1,613,152 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.00439% | 22,759 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,606 |
| East Asian | 0.00223% | 44,880 |
| Admixed American | 0.00167% | 59,990 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,418 |
| Finnishnot grpmax-eligible | 0.00156% | 64,030 |
| African / African-American | 0.00134% | 74,884 |
| European (non-Finnish) | 0.000678% | 147,497 |
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
- ASNS
- Protein
- p.Pro294=
- Coding
- c.882C>T
- MANE Select
- NM_001673
- dbSNP
- rs748677332
- Type
- single nucleotide variant
- Location
- chr7:97858299 (GRCh38)
- Gene constraint
- LOEUF 0.745 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.36 · 3 PDB
- Residue 294
- the asparagine synthetase domain; an α-helix
Similar variants
- ASNS c.1030+1G>A Likely pathogenic ★★ same type
- ASNS c.1138-1G>A Likely pathogenic ★★ same type
- ASNS c.1239-2A>T Likely pathogenic ★★ same type
- ASNS c.1320+1G>C Likely pathogenic ★★ same type
- ASNS c.1320+1G>T Likely pathogenic ★★ same type
- ASNS c.1321-1G>A Likely pathogenic ★★ same type
- ASNS c.1476+1G>A Pathogenic ★★ same type
- ASNS c.1476+2T>C 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/asns-p-pro294 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown