AARS2 p.Glu314fs
c.941del · VCV4778355
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
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 6 of 22 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.3 | GERP -0.06, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- AARS2
- Protein
- p.Glu314fs
- Coding
- c.941del
- MANE Select
- NM_020745
- Type
- Deletion
- Location
- chr6:44307348 (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.Glu314del Uncertain significance ★★ same residue
- AARS2 p.Glu314Lys Conflicting classifications of pathogenicity ★ ⚠ same residue
- AARS2 p.Gln261fs Pathogenic/Likely pathogenic ★★ same type
- AARS2 p.Gly647fs Pathogenic/Likely pathogenic ★★ same type
- AARS2 c.(759+1_760-1 Likely pathogenic ★ same type
- AARS2 p.Gln568fs Pathogenic ★ same type
- AARS2 p.Gln798fs Pathogenic ★ same type
- AARS2 p.Glu686fs 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/aars2-p-glu314fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown