BUB1B p.Tyr343=
c.1029T>C · rs139094508 · VCV3221325
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00267%, afr)
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.69 | GERP 1.1, phastCons 1 |
| Overall | ||
| CADD | 7.037 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00267%
African / African-American · 2/74,938 alleles
Filtering AF
0.000443%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000166%
Overall
0.000124%
2/1,614,042 alleles · very rare
exomes 0/1,461,822 · genomes 2/152,220 · 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.Tyr343=
- Coding
- c.1029T>C
- MANE Select
- NM_001211
- dbSNP
- rs139094508
- Type
- single nucleotide variant
- Location
- chr15:40185613 (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 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
- BUB1B p.Ala171Pro Uncertain significance ★★ ⚠ same condition
- BUB1B p.Ala173Thr Uncertain significance ★★ ⚠ same condition
- BUB1B p.Ala183Thr Uncertain significance ★★ ⚠ same condition
- BUB1B p.Ala285Glu 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-tyr343 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown