ADGRV1 p.Pro226=
c.678A>G · rs527697043 · VCV1588156
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0296%, 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 1.7 | GERP 0.32, phastCons 1 |
| Overall | ||
| CADD | 8.66 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0296%
East Asian · 13/43,890 alleles
Filtering AF
0.0175%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0139%
Overall
0.000857%
13/1,516,602 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
- ADGRV1
- Protein
- p.Pro226=
- Coding
- c.678A>G
- MANE Select
- NM_032119
- dbSNP
- rs527697043
- Type
- single nucleotide variant
- Location
- chr5:90627216 (GRCh38)
- Gene constraint
- LOEUF 0.637 · pLI <0.01 (gnomAD)
- Residue 226
- the calx-beta 2 domain
Similar variants
- ADGRV1 p.Pro226Ser Likely benign ★ same residue
- ADGRV1 c.10054-1G>T Pathogenic/Likely pathogenic ★★ same type
- ADGRV1 c.10974+1G>A Likely pathogenic ★★ same type
- ADGRV1 c.11581-2A>G Likely pathogenic ★★ same type
- ADGRV1 c.11757+2T>C Likely pathogenic ★★ same type
- ADGRV1 c.1239-1G>T Pathogenic/Likely pathogenic ★★ same type
- ADGRV1 c.13232-1G>A Pathogenic/Likely pathogenic ★★ same type
- ADGRV1 c.13654-2A>G Likely 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/adgrv1-p-pro226 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown