AARS2 p.Gly78=
c.234C>A · rs752238227 · VCV516805
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0379%, eas)
Conditions
1
AARS2-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>A here scores Δ0.73 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 2.2 | GERP -0.21, phastCons 1 |
| Overall | ||
| CADD | 11.6 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0379%
East Asian · 17/44,888 alleles
Filtering AF
0.0241%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0197%
Overall
0.00105%
17/1,613,310 alleles · ultra-rare
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
- AARS2
- Protein
- p.Gly78=
- Coding
- c.234C>A
- MANE Select
- NM_020745
- dbSNP
- rs752238227
- Type
- single nucleotide variant
- Location
- chr6:44313090 (GRCh38)
- Gene constraint
- LOEUF 0.752 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 88.05 · 3 PDB
Similar variants
- AARS2 p.Gly78fs Likely pathogenic ★ same residue
- AARS2 c.2598+1G>T Pathogenic/Likely pathogenic ★★ same condition
- AARS2 p.Arg199Cys Pathogenic/Likely pathogenic ★★ ⚠ same condition
- AARS2 p.Arg592Trp Pathogenic/Likely pathogenic ★★ ⚠ same condition
- AARS2 p.Gln798Ter Likely pathogenic ★★ same condition
- AARS2 p.Met1Thr Likely pathogenic ★★ same condition
- AARS2 p.Ala275Val Uncertain significance ★★ ⚠ same condition
- AARS2 c.2007+8C>T Benign/Likely benign ★★ 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/aars2-p-gly78 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown