MOGS p.Gln798=
c.2394G>A · rs1432480854 · VCV3054660
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00133%, afr)
Conditions
1
MOGS-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 -0.081 | GERP 0.45, phastCons 0.56 |
| Overall | ||
| CADD | 3.705 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00133%
African / African-American · 1/75,084 alleles
Overall
6.19e-05%
1/1,614,214 alleles · very rare
exomes 1/1,461,822 · genomes 0/152,392 · joint denominator
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
- MOGS
- Protein
- p.Gln798=
- Coding
- c.2394G>A
- MANE Select
- NM_006302
- dbSNP
- rs1432480854
- Type
- single nucleotide variant
- Location
- chr2:74461395 (GRCh38)
- Gene constraint
- LOEUF 0.85 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 92.42
Disease context
MOGS-related disorder
Similar variants
- MOGS p.Arg495Ter Pathogenic/Likely pathogenic ★★ same condition
- MOGS p.Ser743Ter Uncertain significance ★★ same condition
- MOGS p.Phe376Cys Uncertain significance ★ ⚠ same condition
- MOGS p.His771= Likely benign same condition
- MOGS p.Val216fs Pathogenic/Likely pathogenic ★★ same condition
- MOGS p.Gln124Ter Pathogenic ★★ same type
- MOGS p.Gln505Ter Pathogenic/Likely pathogenic ★★ same type
- MOGS p.Ala22Glu Uncertain significance ★★ ⚠ 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/mogs-p-gln798 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown