BBC3 p.Pro26Arg
c.77C>G · VCV3479893
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.142%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.125 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 4.1, phastCons 1 |
| Regional constraint | o/e 0.83 | unconstrained · MANE · 6,626 bp · p 0.0062 · regional, not allelic |
| Overall | ||
| CADD | 29.0 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.142%
East Asian · 45/31,630 alleles
Filtering AF
0.109%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0976%
Overall
0.00406%
50/1,230,496 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.142% | 703 |
| Finnishnot grpmax-eligible | 0.00631% | 15,847 |
| Remaining individualsnot grpmax-eligible | 0.00438% | 22,821 |
| South Asian | 0.00411% | 24,326 |
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
- BBC3
- Protein
- p.Pro26Arg
- Coding
- c.77C>G
- MANE Select
- NM_014417
- Type
- single nucleotide variant
- Location
- chr19:47228355 (GRCh38)
- Gene constraint
- LOEUF 1.293 · pLI 0.05 (gnomAD)
- Structure
- AlphaFold pLDDT 47.60 · 13 PDB
- Residue 26
- the 'disordered' region
Similar variants
- BBC3 p.Pro26= Uncertain significance ★ ⚠ same residue
- BBC3 c.*23C>T Benign/Likely benign ★★ same type
- BBC3 c.-3G>A Uncertain significance ★ ⚠ same type
- BBC3 c.*16C>T Uncertain significance ★ ⚠ same type
- BBC3 c.*46C>T Uncertain significance ★ ⚠ same type
- BBC3 c.*57C>T Uncertain significance ★ ⚠ same type
- BBC3 c.*64C>G Uncertain significance ★ ⚠ same type
- BBC3 c.*76C>G 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/bbc3-p-pro26arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown