Is PKD2 p.Arg786fs (c.2356_2357del) pathogenic?

PKD2 p.Arg786fs (c.23562357del) is classified Pathogenic in PKD2 (ClinVar, Multiple submitters, 6 submitters; last evaluated 2026-04-17). No allele count reported in gnomAD v4.1 (AN 1,591,792); Associated with autosomal dominant polycystic kidney disease.

What condition is associated with PKD2 p.Arg786fs (c.2356_2357del)?

PKD2 p.Arg786fs (c.2356_2357del) is associated with autosomal dominant polycystic kidney disease, polycystic kidney disease 2 (ClinVar).

How common is PKD2 p.Arg786fs (c.2356_2357del) in the general population?

PKD2 p.Arg786fs (c.2356_2357del) is no allele count reported in gnomAD v4.1 (AN 1,591,792) (gnomAD).

How is Autosomal dominant polycystic kidney disease inherited?

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

PKD2 p.Arg786fs

c.2356_2357del · VCV3377085

Pathogenic Multiple submitters

Classification

Pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 6 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,591,792)

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 in a haploinsufficient gene (ClinGen); NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.3	GERP -3.4, phastCons 1

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

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,591,792). 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: PKD2
Protein: p.Arg786fs
Coding: c.2356_2357del
MANE Select: NM_000297
Type: Microsatellite
Location: chr4:88065873 (GRCh38)
Structure: AlphaFold pLDDT 69.85 · 4 PDB
Residue 786: the protein kinase domain

Full PKD2 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

Also linked: polycystic kidney disease 2

For Autosomal dominant polycystic kidney disease (Orphanet):

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

Similar variants

PKD2 p.Leu729fs Pathogenic ★★ same condition
PKD2 p.Ser701fs Pathogenic ★★ same condition
PKD2 p.Tyr527fs Pathogenic ★★ same condition
PKD2 p.Tyr684fs Pathogenic ★★ same condition
PKD2 p.Glu101_Glu102del Uncertain significance ★★ same condition
PKD2 c.2522+1_2522+2del Pathogenic ★ same condition
PKD2 p.Glu754fs Likely pathogenic ★ same condition
PKD2 p.Glu787fs 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/pkd2-p-arg786fs (accessed [today's date]).

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