Is AVPR2 p.Ile177del (c.529_531del) pathogenic?

AVPR2 p.Ile177del (c.529531del) is classified Uncertain significance in AVPR2 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-08-20). Associated with diabetes insipidus, nephrogenic, X-linked.

What condition is associated with AVPR2 p.Ile177del (c.529_531del)?

AVPR2 p.Ile177del (c.529_531del) is associated with diabetes insipidus, nephrogenic, X-linked (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.Ile177del

c.529_531del · VCV4076965

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

diabetes insipidus, nephrogenic, X-linked

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 4.9	GERP -0.79, phastCons 1

Variant & gene context

Gene: AVPR2
Protein: p.Ile177del
Coding: c.529_531del
MANE Select: NM_000054
Type: Deletion
Location: chrX:153906033 (GRCh38)
Structure: AlphaFold pLDDT 76.84 · 44 PDB
Residue 177: an α-helix; a disulfide bond

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

Disease context

diabetes insipidus, nephrogenic, X-linked — 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.Ile177Asn Likely pathogenic ★ same residue
AVPR2 p.Arg247fs Pathogenic ★★ same condition
AVPR2 p.Arg251fs Likely pathogenic ★★ same condition
AVPR2 p.Ile46fs Pathogenic ★★ same condition
AVPR2 p.Tyr128del Pathogenic/Likely pathogenic ★★ same condition
AVPR2 p.Tyr205fs Pathogenic ★★ same condition
AVPR2 p.Ala114_Val115insTer Pathogenic ★ same condition
AVPR2 p.Glu198fs 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-ile177del (accessed [today's date]).

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