Is ANO6 p.Val383= (c.1149A>G) pathogenic?

ANO6 p.Val383= (c.1149A>G) is classified Likely benign in ANO6 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-10-26). Absent from gnomAD v4.1.

How common is ANO6 p.Val383= (c.1149A>G) in the general population?

ANO6 p.Val383= (c.1149A>G) is absent from gnomAD v4.1 (gnomAD).

ANO6 p.Val383=

c.1149A>G · VCV4750736

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

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 -0.17	GERP -5.4, phastCons 0.006
Overall
CADD	3.051	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: ANO6
Protein: p.Val383=
Coding: c.1149A>G
MANE Select: NM_001025356
Type: single nucleotide variant
Location: chr12:45378097 (GRCh38)
Gene constraint: LOEUF 1.02 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 82.00
Residue 383: a disulfide bond

Full ANO6 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ANO6 c.1387-1G>T Pathogenic ★★ same type
ANO6 p.Arg253Cys Uncertain significance ★★ ⚠ same type
ANO6 p.Arg253His Uncertain significance ★★ ⚠ same type
ANO6 p.Arg276Gln Uncertain significance ★★ ⚠ same type
ANO6 p.Arg399Cys Uncertain significance ★★ ⚠ same type
ANO6 p.Arg635Gln Uncertain significance ★★ ⚠ same type
ANO6 p.Arg648Leu Uncertain significance ★★ ⚠ same type
ANO6 p.Arg862Cys Uncertain significance ★★ ⚠ same type

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/ano6-p-val383 (accessed [today's date]).

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