ERBIN p.Leu189=
c.565C>T · rs706679 · VCV1169278
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Common
common (popmax 86.9%, nfe) — too common for a highly-penetrant pathogenic allele
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 0.1 | GERP 2.6, phastCons 0.94 |
| Overall | ||
| CADD | 8.398 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
86.9%
European (non-Finnish) · 1,016,840/1,170,540 alleles
Filtering AF
86.7%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 86.7%
Overall
82.6%
1,321,150/1,599,706 alleles · common
exomes 1,209,679/1,447,842 · genomes 111,471/151,864 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 86.9% | 1 |
| Finnishnot grpmax-eligible | 85% | 1 |
| South Asian | 84.6% | 1 |
| Amishnot grpmax-eligible | 83.7% | 1 |
| Remaining individualsnot grpmax-eligible | 80.4% | 1 |
| Middle Eastern | 80.4% | 1 |
| Ashkenazi Jewishnot grpmax-eligible | 73% | 1 |
| Admixed American | 58% | 2 |
| East Asian | 54.6% | 2 |
| African / African-American | 52.5% | 2 |
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.Leu189=
- Coding
- c.565C>T
- MANE Select
- NM_001253697
- dbSNP
- rs706679
- Type
- single nucleotide variant
- Location
- chr5:66021353 (GRCh38)
- Gene constraint
- LOEUF 0.526 · pLI 0.72 (gnomAD)
- Structure
- AlphaFold pLDDT 56.01 · 11 PDB
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-leu189 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown