GMPPB p.Arg243=
c.729G>C · rs370448223 · VCV3036744
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0011%, sas)
Conditions
1
GMPPB-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 -4.6 | GERP -4.8 |
| Overall | ||
| CADD | 0.452 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0011%
South Asian · 1/91,078 alleles
Overall
6.2e-05%
1/1,613,874 alleles · very rare
exomes 1/1,461,530 · genomes 0/152,344 · 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
- GMPPB
- Protein
- p.Arg243=
- Coding
- c.729G>C
- MANE Select
- NM_021971
- dbSNP
- rs370448223
- Type
- single nucleotide variant
- Location
- chr3:49722270 (GRCh38)
- Gene constraint
- LOEUF 1.189 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 96.33 · 3 PDB
- Residue 243
- a turn
Disease context
GMPPB-related disorder
Similar variants
- GMPPB p.Arg243Gln Conflicting classifications of pathogenicity ★ ⚠ same residue
- GMPPB p.Arg243Trp Conflicting classifications of pathogenicity ★ ⚠ same residue
- GMPPB p.Arg243fs Pathogenic/Likely pathogenic ★★ same residue
- GMPPB p.Arg287Gln Pathogenic/Likely pathogenic ★★ ⚠ same condition
- GMPPB p.Arg287Trp Pathogenic ★★ same condition
- GMPPB p.Asp27His Pathogenic/Likely pathogenic ★★ same condition
- GMPPB p.Asp334Asn Pathogenic/Likely pathogenic ★★ ⚠ same condition
- GMPPB p.Ile219Thr 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/gmppb-p-arg243 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown