BUB1B p.Tyr155fs
c.464del · VCV3723848
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
mosaic variegated aneuploidy syndrome 1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 5 of 23 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.7 | GERP 2.1, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BUB1B
- Protein
- p.Tyr155fs
- Coding
- c.464del
- MANE Select
- NM_001211
- Type
- Deletion
- Location
- chr15:40176556 (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 155
- the bub1 n-terminal domain; the 'necessary for interaction with knl1' region; an α-helix
Similar variants
- BUB1B p.Tyr155Cys Uncertain significance ★★ ⚠ same residue
- BUB1B p.Tyr155His Uncertain significance ★ ⚠ same residue
- BUB1B p.Ala957fs Likely pathogenic ★★ same condition
- BUB1B p.Arg80_Tyr81insTer Pathogenic/Likely pathogenic ★★ same condition
- BUB1B p.His856fs Pathogenic/Likely pathogenic ★★ same condition
- BUB1B c.1628+24_1628+32del Likely benign ★★ same condition
- BUB1B p.Ala332fs Likely pathogenic ★ same condition
- BUB1B p.Arg104fs 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-tyr155fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown