BUB1B p.Lys795=
c.2385G>A · rs1427050449 · VCV2721762
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000606%, nfe)
Conditions
1
mosaic variegated aneuploidy syndrome 1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.88 | donor loss · deltas |
|---|---|---|
| Pangolin | Δ0.77 | loss · gain 0.26 · agrees with SpliceAI · independent |
| Constraint at this position | ||
| Conservation | phyloP 11 | GERP 2.2, phastCons 1 |
| Overall | ||
| CADD | 24.2 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000606%
European (non-Finnish) · 7/1,154,436 alleles
Filtering AF
0.000252%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000162%
Overall
0.000442%
7/1,585,420 alleles · very rare
exomes 6/1,433,372 · genomes 1/152,048 · joint denominator
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.Lys795=
- Coding
- c.2385G>A
- MANE Select
- NM_001211
- dbSNP
- rs1427050449
- Type
- single nucleotide variant
- Location
- chr15:40210210 (GRCh38)
- Gene constraint
- LOEUF 0.707 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 64.62 · 9 PDB
- Residue 795
- a binding site; the protein kinase domain
Similar variants
- BUB1B p.Lys795Asn Uncertain significance ★ ⚠ same residue
- BUB1B p.Arg114Ter Pathogenic ★★ same condition
- BUB1B p.Arg120Ter Pathogenic ★★ same condition
- BUB1B p.Arg194Ter Pathogenic/Likely pathogenic ★★ same condition
- BUB1B p.Arg199Ter Pathogenic/Likely pathogenic ★★ same condition
- BUB1B p.Arg67Ter Pathogenic/Likely pathogenic ★★ same condition
- BUB1B p.Gln267Ter Pathogenic ★★ same condition
- BUB1B p.Leu737Ter Pathogenic/Likely pathogenic ★★ 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-lys795 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown