ADGRG1 p.Arg370=
c.1110G>A · rs753570087 · VCV2761760
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00223%, eas)
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 1.6 | GERP -3.5, phastCons 0.98 |
| Overall | ||
| CADD | 7.962 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00223%
East Asian · 1/44,874 alleles
Overall
6.84e-05%
1/1,461,722 alleles · very 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
- ADGRG1
- Protein
- p.Arg370=
- Coding
- c.1110G>A
- MANE Select
- NM_201525
- dbSNP
- rs753570087
- Type
- single nucleotide variant
- Location
- chr16:57656560 (GRCh38)
- Gene constraint
- LOEUF 0.871 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 78.29 · 2 PDB
- Residue 370
- the gain-b domain; the 'gps' region; a disulfide bond; a UniProt-annotated variant site (in cdcbm14a)
Similar variants
- ADGRG1 p.Arg370Lys Uncertain significance ★ ⚠ same residue
- ADGRG1 c.1933+1G>T Pathogenic/Likely pathogenic ★★ same type
- ADGRG1 c.488-2A>G Likely pathogenic ★★ same type
- ADGRG1 c.620+1G>A Pathogenic/Likely pathogenic ★★ same type
- ADGRG1 p.Arg271Ter Pathogenic ★★ same type
- ADGRG1 p.Arg38Gln Pathogenic/Likely pathogenic ★★ ⚠ same type
- ADGRG1 p.Arg470Ter Pathogenic ★★ same type
- ADGRG1 p.Arg496Ter 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/adgrg1-p-arg370 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown