ERBIN p.Pro615=
c.1845A>C · rs144095070 · VCV737969
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.359%, afr)
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 0.22 | GERP 0.2, phastCons 0.19 |
| Overall | ||
| CADD | 7.108 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.359%
African / African-American · 269/74,890 alleles
Filtering AF
0.324%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.31%
Overall
0.0185%
297/1,609,064 alleles · rare
exomes 138/1,457,000 · genomes 159/152,064 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.359% | 278 |
| Admixed American | 0.0201% | 4,978 |
| Remaining individualsnot grpmax-eligible | 0.0193% | 5,187 |
| Middle Eastern | 0.0165% | 6,044 |
| South Asian | 0.00111% | 89,788 |
| European (non-Finnish) | 0.00017% | 588,796 |
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.Pro615=
- Coding
- c.1845A>C
- MANE Select
- NM_001253697
- dbSNP
- rs144095070
- Type
- single nucleotide variant
- Location
- chr5:66048723 (GRCh38)
- Gene constraint
- LOEUF 0.526 · pLI 0.72 (gnomAD)
- Structure
- AlphaFold pLDDT 56.01 · 11 PDB
- Residue 615
- the 'disordered' region
Similar variants
- ERBIN p.Pro615Leu Uncertain significance ★ same residue
- ERBIN p.Pro615_Leu616insTer Uncertain significance ★ same residue
- 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
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-pro615 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown