Is AVP p.Phe22del (c.64_66del) pathogenic?

AVP p.Phe22del (c.6466del) is classified Uncertain significance in AVP (ClinVar, Single submitter, 2 submitters; last evaluated 2025-01-29). Absent from gnomAD; Associated with neurohypophyseal diabetes insipidus.

What condition is associated with AVP p.Phe22del (c.64_66del)?

AVP p.Phe22del (c.64_66del) is associated with neurohypophyseal diabetes insipidus (ClinVar).

How common is AVP p.Phe22del (c.64_66del) in the general population?

AVP p.Phe22del (c.64_66del) is absent from gnomAD (gnomAD).

AVP p.Phe22del

c.64_66del · rs2148571804 · VCV12222

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 2 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

neurohypophyseal diabetes insipidus

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 8.4	GERP 1.1, phastCons 1

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: AVP
Protein: p.Phe22del
Coding: c.64_66del
MANE Select: NM_001243133 · reported on NM_000490
dbSNP: rs2148571804
Type: Deletion
Location: chr20:3084609 (GRCh38)
Structure: AlphaFold pLDDT 81.16 · 27 PDB
Residue 22: the pyrin domain; an α-helix; a disulfide bond

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

Disease context

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

Similar variants

AVP p.Ser87_Gln89del Uncertain significance ★ same condition
AVP p.Met1fs Pathogenic same condition
AVP p.Ala19Thr Pathogenic ★★ ⚠ same condition
AVP p.Cys92Tyr Likely pathogenic ★★ same condition
AVP p.Gly54Arg Pathogenic ★★ same condition
AVP p.Gly96Asp Pathogenic/Likely pathogenic ★★ same condition
AVP p.Ser87Phe Pathogenic/Likely pathogenic ★★ same condition
AVP c.322+4C>A Uncertain significance ★★ 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/avp-p-phe22del (accessed [today's date]).

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