ALS2 p.Gly1310=
c.3930C>A · rs780354290 · VCV333589
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0379%, eas)
Conditions
2
ALS2-related disorder
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 1.8 | GERP -0.18, phastCons 1 |
| Overall | ||
| CADD | 8.469 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0379%
East Asian · 17/44,882 alleles
Filtering AF
0.0241%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0197%
Overall
0.00105%
17/1,614,036 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
- ALS2
- Protein
- p.Gly1310=
- Coding
- c.3930C>A
- MANE Select
- NM_020919
- dbSNP
- rs780354290
- Type
- single nucleotide variant
- Location
- chr2:201715746 (GRCh38)
- Gene constraint
- LOEUF 0.649 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 74.69
Similar variants
- ALS2 c.2580+2T>C Pathogenic ★★ same condition
- ALS2 c.4626+1G>A Pathogenic/Likely pathogenic ★★ same condition
- ALS2 p.Ala573Glu Likely pathogenic ★★ same condition
- ALS2 p.Arg1139Ter Pathogenic/Likely pathogenic ★★ same condition
- ALS2 p.Arg1421Ter Pathogenic/Likely pathogenic ★★ same condition
- ALS2 p.Arg1461Ter Pathogenic ★★ same condition
- ALS2 p.Arg1510Ter Pathogenic/Likely pathogenic ★★ same condition
- ALS2 p.Arg201Ter Pathogenic/Likely pathogenic ★★ 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/als2-p-gly1310 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown