BCO1 p.Asn35=
c.105T>C · rs28370522 · VCV1250161
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 52.4%, 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. | ||
| REVEL | 0.277 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -11 | GERP -2.8 |
| Overall | ||
| CADD | 0.013 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
52.4%
African / African-American · 39,272/74,982 alleles
Filtering AF
51.9%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 51.8%
Overall
33.4%
538,511/1,613,986 alleles · common
exomes 479,487/1,461,826 · genomes 59,024/152,160 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 52.4% | 2 |
| Amishnot grpmax-eligible | 39% | 3 |
| East Asian | 37.1% | 3 |
| Finnishnot grpmax-eligible | 35.3% | 3 |
| Ashkenazi Jewishnot grpmax-eligible | 34.7% | 3 |
| Middle Eastern | 34.2% | 3 |
| Remaining individualsnot grpmax-eligible | 34.2% | 3 |
| European (non-Finnish) | 32.4% | 3 |
| Admixed American | 31.9% | 3 |
| South Asian | 27.3% | 4 |
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.Asn35=
- Coding
- c.105T>C
- MANE Select
- NM_017429
- dbSNP
- rs28370522
- Type
- single nucleotide variant
- Location
- chr16:81245515 (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-asn35 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown