ASNS p.Arg424=
c.1272A>G · rs368289673 · VCV1131231
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00254%, nfe)
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 -2.5 | GERP -3.7 |
| Overall | ||
| CADD | 0.686 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00254%
European (non-Finnish) · 30/1,179,914 alleles
Filtering AF
0.0018%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00156%
Overall
0.00192%
31/1,612,880 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00254% | 39,330 |
| Admixed American | 0.00167% | 59,962 |
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.Arg424=
- Coding
- c.1272A>G
- MANE Select
- NM_001673
- dbSNP
- rs368289673
- Type
- single nucleotide variant
- Location
- chr7:97853353 (GRCh38)
- Gene constraint
- LOEUF 0.745 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 94.36 · 3 PDB
- Residue 424
- the asparagine synthetase domain; an α-helix
Similar variants
- ASNS p.Arg424Ter Pathogenic/Likely pathogenic ★★ same residue
- 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
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-arg424 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown