Is ANO3 p.Thr182= (c.546A>G) pathogenic?

ANO3 p.Thr182= (c.546A>G) is classified Likely benign in ANO3 (ClinVar, Single submitter, 1 submitter; last evaluated 2019-04-29). Ultra-rare (popmax 0.0158%, eas); Associated with dystonic disorder.

What condition is associated with ANO3 p.Thr182= (c.546A>G)?

ANO3 p.Thr182= (c.546A>G) is associated with dystonic disorder (ClinVar).

How common is ANO3 p.Thr182= (c.546A>G) in the general population?

ANO3 p.Thr182= (c.546A>G) is ultra-rare (popmax 0.0158%, eas) (gnomAD).

ANO3 p.Thr182=

c.546A>G · rs2134136852 · VCV1148911

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0158%, eas)

Conditions

dystonic disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.96	GERP 0.96, phastCons 0.99
Overall
CADD	7.822	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0158% East Asian · 7/44,318 alleles

Filtering AF 0.00734% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0052%

Overall 0.000436% 7/1,603,790 alleles · ultra-rare

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: ANO3
Protein: p.Thr182=
Coding: c.546A>G
MANE Select: NM_031418
dbSNP: rs2134136852
Type: single nucleotide variant
Location: chr11:26508217 (GRCh38)
Gene constraint: LOEUF 0.911 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 76.30

Full ANO3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

dystonic disorder — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

MUC15 p.Asn182Ser Uncertain significance ★ ⚠ same residue
ANO3 p.Ala657Thr Likely pathogenic ★★ same condition
ANO3 p.Asn648Ser Pathogenic/Likely pathogenic ★★ same condition
ANO3 p.Glu510Lys Pathogenic/Likely pathogenic ★★ same condition
ANO3 c.1836+4A>C Uncertain significance ★★ same condition
ANO3 c.2141+1G>A Uncertain significance ★★ same condition
ANO3 c.2276-6T>C Uncertain significance ★★ same condition
ANO3 c.2764-5T>G 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/ano3-p-thr182 (accessed [today's date]).

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