AVPR2 p.Met272fs
c.815dup · VCV3356326
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
2
nephrogenic syndrome of inappropriate antidiuresis
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 11 | GERP 1.9, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- AVPR2
- Protein
- p.Met272fs
- Coding
- c.815dup
- MANE Select
- NM_000054
- Type
- Duplication
- Location
- chrX:153906320 (GRCh38)
- Structure
- AlphaFold pLDDT 76.84 · 44 PDB
- Residue 272
- a UniProt-annotated variant site (in ndi1); an α-helix
Disease context
nephrogenic syndrome of inappropriate antidiuresis — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsAlso linked: diabetes insipidus, nephrogenic, X-linked
For Nephrogenic syndrome of inappropriate antidiuresis (Orphanet):
- Inheritance
- X-linked recessive
- Onset
- Childhood
Similar variants
- AVPR2 p.Met272Ile Likely pathogenic ★ same residue
- AVPR2 p.Met272Val Likely pathogenic same residue
- AVPR2 p.Gly257_Glu258insTer Pathogenic ★ same condition
- AVPR2 p.Ser327fs Likely pathogenic ★ same condition
- AVPR2 p.Val332fs Likely pathogenic ★ same condition
- AVPR2 p.Arg104Cys Pathogenic/Likely pathogenic ★★ ⚠ same condition
- AVPR2 p.Arg113Trp Pathogenic ★★ same condition
- AVPR2 p.Arg137Cys 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-met272fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown