Is AVPR2 p.Val51fs (c.152_159del) pathogenic?

AVPR2 p.Val51fs (c.152159del) is classified Pathogenic in AVPR2 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-04-23). Associated with nephrogenic diabetes insipidus.

What condition is associated with AVPR2 p.Val51fs (c.152_159del)?

AVPR2 p.Val51fs (c.152_159del) is associated with nephrogenic diabetes insipidus (ClinVar).

How is Arginine vasopressin resistance inherited?

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

AVPR2 p.Val51fs

c.152_159del · VCV3896670

Pathogenic Multiple submitters

Classification

Pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

nephrogenic diabetes insipidus

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	predicted	premature termination codon in exon 3 of 4
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 9.4	GERP 0.58, phastCons 1

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

Variant & gene context

Gene: AVPR2
Protein: p.Val51fs
Coding: c.152_159del
MANE Select: NM_000054
Type: Deletion
Location: chrX:153905655 (GRCh38)
Structure: AlphaFold pLDDT 76.84 · 44 PDB
Residue 51: an α-helix

Full AVPR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

nephrogenic diabetes insipidus — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Arginine vasopressin resistance (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Onset: Infancy, Neonatal
Prevalence: 1-9 / 1 000 000 (Europe)

Similar variants

AVPR2 p.Arg158fs Pathogenic/Likely pathogenic ★★ same condition
AVPR2 p.Arg251fs Likely pathogenic ★★ same condition
AVPR2 p.Gly185fs Pathogenic/Likely pathogenic ★★ same condition
AVPR2 p.Gly257fs Likely pathogenic ★★ same condition
AVPR2 p.Cys142fs Likely pathogenic ★ same condition
AVPR2 p.Leu274del Likely pathogenic ★ same condition
AVPR2 p.Arg104Cys Pathogenic/Likely pathogenic ★★ ⚠ same condition
AVPR2 p.Arg137His 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/avpr2-p-val51fs (accessed [today's date]).

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