Is DNAJB11 p.Arg56fs (c.166_167insTT) pathogenic?

DNAJB11 p.Arg56fs (c.166167insTT) is classified Pathogenic in DNAJB11 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2018-07-27). Absent from gnomAD; Associated with polycystic kidney disease 6 with or without polycystic liver disease.

What condition is associated with DNAJB11 p.Arg56fs (c.166_167insTT)?

DNAJB11 p.Arg56fs (c.166_167insTT) is associated with polycystic kidney disease 6 with or without polycystic liver disease (ClinVar).

How common is DNAJB11 p.Arg56fs (c.166_167insTT) in the general population?

DNAJB11 p.Arg56fs (c.166_167insTT) is absent from gnomAD (gnomAD).

How is Autosomal dominant polycystic kidney disease inherited?

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

DNAJB11 p.Arg56fs

c.166_167insTT · rs1553849920 · VCV549848

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

polycystic kidney disease 6 with or without polycystic liver 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 2 of 10
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 3.5	GERP -0.083, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: DNAJB11
Protein: p.Arg56fs
Coding: c.166_167insTT
MANE Select: NM_016306
dbSNP: rs1553849920
Type: Insertion
Location: chr3:186572192 (GRCh38)
Gene constraint: LOEUF 0.933 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 84.34
Residue 56: the j domain

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

Disease context

polycystic kidney disease 6 with or without polycystic liver 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.Arg206Ter Pathogenic ★★ same condition
DNAJB11 p.Arg242Ter Pathogenic ★★ same condition
DNAJB11 p.Arg24Ter Pathogenic ★★ same condition
DNAJB11 p.Leu77Pro Likely pathogenic ★★ same condition
DNAJB11 p.Pro54Arg Likely pathogenic ★★ same condition
DNAJB11 p.Asp55Asn Uncertain significance ★★ ⚠ same condition
DNAJB11 c.324-27dup Benign ★★ same condition
DNAJB11 c.324-1G>A 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-arg56fs (accessed [today's date]).

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