Is BUB1B p.Arg814fs (c.2436_2439dup) pathogenic?

BUB1B p.Arg814fs (c.24362439dup) is classified Pathogenic in BUB1B (ClinVar, Single submitter, 1 submitter; last evaluated 2025-02-12). Associated with mosaic variegated aneuploidy syndrome 1.

What condition is associated with BUB1B p.Arg814fs (c.2436_2439dup)?

BUB1B p.Arg814fs (c.2436_2439dup) is associated with mosaic variegated aneuploidy syndrome 1 (ClinVar).

BUB1B p.Arg814fs

c.2436_2439dup · VCV4712931

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

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 19 of 23
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.7	GERP 1.9, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: BUB1B
Protein: p.Arg814fs
Coding: c.2436_2439dup
MANE Select: NM_001211
Type: Duplication
Location: chr15:40212546 (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 814: the protein kinase domain; a UniProt-annotated variant site (in mva1; heterozygous compound with nonsense mutation)

Full BUB1B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

mosaic variegated aneuploidy syndrome 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BUB1B p.Arg814Cys Uncertain significance ★ ⚠ same residue
BUB1B p.Arg814Gly Uncertain significance ★ ⚠ same residue
BUB1B p.Arg814His Conflicting classifications of pathogenicity ★ ⚠ same residue
BUB1B c.36-13dup Benign ★★ same condition
BUB1B p.Ala789fs Pathogenic ★ same condition
BUB1B p.Asn268fs Pathogenic ★ same condition
BUB1B p.Gly491fs Pathogenic ★ same condition
BUB1B p.His880fs 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-arg814fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown