ADGRE2 p.Glu366del
c.1097_1099del · VCV4762292
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00017%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.28 | GERP 1.3 |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00017%
European (non-Finnish) · 2/1,179,614 alleles
Filtering AF
2.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000137%
2/1,461,362 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
- ADGRE2
- Protein
- p.Glu366del
- Coding
- c.1097_1099del
- MANE Select
- NM_013447
- Type
- Deletion
- Location
- chr19:14756331 (GRCh38)
- Gene constraint
- LOEUF 1.028 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 79.44 · 3 PDB
- Residue 366
- the gain-b domain
Similar variants
- ADGRE2 c.1084+19_1084+36del Benign/Likely benign ★★ same type
- ADGRE2 p.Gln565fs Likely benign ★★ same type
- ADGRE2 c.1085-3_1085-2del Uncertain significance ★ same type
- ADGRE2 c.2353-4_2354del Uncertain significance ★ same type
- ADGRE2 c.355_355+7del Uncertain significance ★ same type
- ADGRE2 p.Arg675fs Uncertain significance ★ same type
- ADGRE2 p.Asn69del Uncertain significance ★ same type
- ADGRE2 p.Gly543_Leu544insTer Conflicting classifications of pathogenicity ★ 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/adgre2-p-glu366del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown