ADGRV1 p.Pro968=
c.2904A>C · rs1767695251 · VCV2767885
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 0.21 | GERP -4.1, phastCons 0.032 |
| Overall | ||
| CADD | 8.774 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ADGRV1
- Protein
- p.Pro968=
- Coding
- c.2904A>C
- MANE Select
- NM_032119
- dbSNP
- rs1767695251
- Type
- single nucleotide variant
- Location
- chr5:90645973 (GRCh38)
- Gene constraint
- LOEUF 0.637 · pLI <0.01 (gnomAD)
- Residue 968
- the calx-beta 7 domain
Similar variants
- ADGRV1 p.Pro968Thr Uncertain significance ★ ⚠ 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-pro968 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown