BCO1 p.Pro226=
c.678A>G · rs7202895 · VCV1232968
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 36.6%, afr) — 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 -2.6 | GERP -2.9 |
| Overall | ||
| CADD | 0.859 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
36.6%
African / African-American · 27,386/74,842 alleles
Filtering AF
36.2%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 36.1%
Overall
5.29%
85,292/1,613,662 alleles · common
exomes 65,768/1,461,794 · genomes 19,524/151,868 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 36.6% | 3 |
| Middle Eastern | 11.5% | 9 |
| Ashkenazi Jewishnot grpmax-eligible | 8.1% | 12 |
| Remaining individualsnot grpmax-eligible | 6.65% | 15 |
| South Asian | 5.79% | 17 |
| Admixed American | 5.08% | 20 |
| Amishnot grpmax-eligible | 4.41% | 23 |
| European (non-Finnish) | 3.48% | 29 |
| Finnishnot grpmax-eligible | 1.68% | 60 |
| East Asian | 0.225% | 444 |
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
- BCO1
- Protein
- p.Pro226=
- Coding
- c.678A>G
- MANE Select
- NM_017429
- dbSNP
- rs7202895
- Type
- single nucleotide variant
- Location
- chr16:81267966 (GRCh38)
- Gene constraint
- LOEUF 1.17 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.03
Similar variants
- BCO1 p.Arg266Trp Uncertain significance ★★ ⚠ same type
- BCO1 p.Thr170Met Uncertain significance ★★ ⚠ same type
- BCO1 c.1101+48C>T Benign ★★ same type
- BCO1 c.1102-81T>C Benign ★★ same type
- BCO1 c.1303-13G>A Benign ★★ same type
- BCO1 c.1303-70A>G Benign ★★ same type
- BCO1 c.194-219A>G Benign ★★ same type
- BCO1 c.194-74A>G Benign ★★ 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/bco1-p-pro226 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown