Is AVPR2 p.Val270fs (c.809_810del) pathogenic?

AVPR2 p.Val270fs (c.809810del) is classified Pathogenic in AVPR2 (ClinVar, Single submitter, 2 submitters; last evaluated 2023-07-31). Absent from gnomAD; Associated with AVPR2-related disorder.

What condition is associated with AVPR2 p.Val270fs (c.809_810del)?

AVPR2 p.Val270fs (c.809_810del) is associated with AVPR2-related disorder, diabetes insipidus, nephrogenic, X-linked (ClinVar).

How common is AVPR2 p.Val270fs (c.809_810del) in the general population?

AVPR2 p.Val270fs (c.809_810del) is absent from gnomAD (gnomAD).

AVPR2 p.Val270fs

c.809_810del · rs2064966689 · VCV998017

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

AVPR2-related disorder

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 3.2	GERP 1.9, 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: AVPR2
Protein: p.Val270fs
Coding: c.809_810del
MANE Select: NM_000054
dbSNP: rs2064966689
Type: Microsatellite
Location: chrX:153906313 (GRCh38)
Structure: AlphaFold pLDDT 76.84 · 44 PDB
Residue 270: an α-helix

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

Disease context

AVPR2-related disorder

Also linked: diabetes insipidus, nephrogenic, X-linked

Similar variants

AVPR2 p.Val270Gly Uncertain significance ★ ⚠ same residue
AVPR2 p.Val279del Pathogenic/Likely pathogenic ★★ same condition
AVPR2 p.64RRG[1] Conflicting classifications of pathogenicity ★ same condition
AVPR2 p.Ser21_Asn22insLeuProSer Uncertain significance ★ same condition
AVPR2 p.Val270= Likely benign ★ same residue
AVPR2 p.Arg104Cys Pathogenic/Likely pathogenic ★★ ⚠ same condition
AVPR2 p.Arg113Trp 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-val270fs (accessed [today's date]).

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