ERBIN p.Arg476=
c.1428G>A · rs189776329 · VCV1552917
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.206%, 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 3 | GERP 3.6, phastCons 1 |
| Overall | ||
| CADD | 18.26 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.206%
East Asian · 92/44,768 alleles
Filtering AF
0.172%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.159%
Overall
0.0062%
100/1,612,242 alleles · rare
exomes 78/1,459,996 · genomes 22/152,246 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.206% | 487 |
| Remaining individualsnot grpmax-eligible | 0.0112% | 8,918 |
| European (non-Finnish) | 8.48e-05% | 1,179,152 |
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
- ERBIN
- Protein
- p.Arg476=
- Coding
- c.1428G>A
- MANE Select
- NM_001253697
- dbSNP
- rs189776329
- Type
- single nucleotide variant
- Location
- chr5:66043198 (GRCh38)
- Gene constraint
- LOEUF 0.526 · pLI 0.72 (gnomAD)
- Structure
- AlphaFold pLDDT 56.01 · 11 PDB
- Residue 476
- the 'disordered' region
Similar variants
- ERBIN p.Ala942Val Uncertain significance ★★ ⚠ same type
- ERBIN p.Arg1096Gln Uncertain significance ★★ ⚠ same type
- ERBIN p.Arg1166Gln Uncertain significance ★★ ⚠ same type
- ERBIN p.Asn1035Ser Uncertain significance ★★ ⚠ same type
- ERBIN p.Asn650Ser Uncertain significance ★★ ⚠ same type
- ERBIN p.Asp530Tyr Uncertain significance ★★ ⚠ same type
- ERBIN p.Cys658Ser Uncertain significance ★★ ⚠ same type
- ERBIN p.His521Arg Uncertain significance ★★ ⚠ 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/erbin-p-arg476 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown