Is DNAJB11 p.Lys284fs (c.831_849dup) pathogenic?

DNAJB11 p.Lys284fs (c.831849dup) is classified Pathogenic in DNAJB11 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-01-30). Associated with autosomal dominant polycystic kidney disease.

What condition is associated with DNAJB11 p.Lys284fs (c.831_849dup)?

DNAJB11 p.Lys284fs (c.831_849dup) is associated with autosomal dominant polycystic kidney disease (ClinVar).

How is Autosomal dominant polycystic kidney disease inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

DNAJB11 p.Lys284fs

c.831_849dup · VCV4818743

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

autosomal dominant polycystic kidney disease

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 8 of 10
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.9	GERP 2.3, phastCons 1

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

Variant & gene context

Gene: DNAJB11
Protein: p.Lys284fs
Coding: c.831_849dup
MANE Select: NM_016306
Type: Duplication
Location: chr3:186583954 (GRCh38)
Gene constraint: LOEUF 0.933 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 84.34
Residue 284: a UniProt-annotated variant site (in pkd6)

Full DNAJB11 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

autosomal dominant polycystic kidney disease — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Autosomal dominant polycystic kidney disease (Orphanet):

Inheritance: Autosomal dominant
Onset: Adolescent, Adult, Childhood
Prevalence: 1-5 / 10 000 (Europe)

Similar variants

DNAJB11 p.Tyr89Ter Likely pathogenic same condition
DNAJB11 p.Arg206Ter Pathogenic ★★ same condition
DNAJB11 p.Arg242Ter Pathogenic ★★ same condition
DNAJB11 p.Arg24Ter Pathogenic ★★ same condition
DNAJB11 p.Arg34Ter Pathogenic ★★ same condition
DNAJB11 p.Glu144Ter Pathogenic/Likely pathogenic ★★ same condition
DNAJB11 p.Ile134fs Pathogenic/Likely pathogenic ★★ same condition
DNAJB11 p.Leu77Pro 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/dnajb11-p-lys284fs (accessed [today's date]).

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