BUB1B p.Gly8=
c.24G>A · rs574718417 · VCV1792223
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0111%, eas)
Conditions
1
Inborn genetic diseases
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 0.69 | GERP -2.4 |
| Overall | ||
| CADD | 9.094 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0111%
East Asian · 5/44,868 alleles
Filtering AF
0.00435%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00276%
Overall
0.000434%
7/1,613,158 alleles · ultra-rare
exomes 4/1,460,848 · genomes 3/152,310 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0111% | 8,974 |
| South Asian | 0.0022% | 45,398 |
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
- BUB1B
- Protein
- p.Gly8=
- Coding
- c.24G>A
- MANE Select
- NM_001211
- dbSNP
- rs574718417
- Type
- single nucleotide variant
- Location
- chr15:40161244 (GRCh38)
- Gene constraint
- LOEUF 0.707 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 64.62 · 9 PDB
Similar variants
- BUB1B p.Gly8Ala Uncertain significance ★★ ⚠ same residue
- BUB1B p.Gly8Trp Uncertain significance ★★ ⚠ same residue
- BUB1B p.Gly8Arg Uncertain significance ★ ⚠ same residue
- BUB1B p.Gly8Val Uncertain significance ★★ ⚠ same residue
- BUB1B c.35+4G>T Uncertain significance ★★ same condition
- BUB1B p.Ala1017Thr Uncertain significance ★★ ⚠ same condition
- BUB1B p.Ala1046Pro Uncertain significance ★★ ⚠ same condition
- BUB1B p.Ala108Thr Uncertain significance ★★ ⚠ same condition
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/bub1b-p-gly8 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown