ALS2 p.Gly901fs
c.2700dup · rs767762611 · VCV3248622
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
ultra-rare (gnomAD MAF 7.135e-07)
Conditions
1
ALS2-related disorder
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 14 of 34 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 1.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
dbSNP / gnomAD
Global frequency
7.13e-05%
via dbSNP · ultra-rare
No ancestry breakdown or filtering allele frequency is available for this variant, so BA1/BS1 cannot be assessed from this figure alone.
Variant & gene context
- Gene
- ALS2
- Protein
- p.Gly901fs
- Coding
- c.2700dup
- MANE Select
- NM_020919
- dbSNP
- rs767762611
- Type
- Duplication
- Location
- chr2:201729063 (GRCh38)
- Gene constraint
- LOEUF 0.649 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 74.69
- Residue 901
- the ph domain
Similar variants
- ALS2 p.Arg1510Ter Pathogenic/Likely pathogenic ★★ same condition
- ALS2 p.Arg998Ter Pathogenic/Likely pathogenic ★★ same condition
- ALS2 p.Ala296Thr Uncertain significance ★★ ⚠ same condition
- ALS2 p.Ala391Thr Uncertain significance ★★ ⚠ same condition
- ALS2 p.Arg1139Gln Uncertain significance ★★ ⚠ same condition
- ALS2 p.Arg843Gln Uncertain significance ★★ ⚠ same condition
- ALS2 p.Ile1220Val Uncertain significance ★★ ⚠ same condition
- ALS2 p.Pro1288Leu Uncertain significance ★★ ⚠ 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-gly901fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown