Is ANO5 p.Phe690fs (c.2069_2070del) pathogenic?

ANO5 p.Phe690fs (c.20692070del) is classified Likely pathogenic in ANO5 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-01-12). Associated with ANO5-related disorder.

What condition is associated with ANO5 p.Phe690fs (c.2069_2070del)?

ANO5 p.Phe690fs (c.2069_2070del) is associated with ANO5-related disorder (ClinVar).

ANO5 p.Phe690fs

c.2069_2070del · VCV4911062

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

ANO5-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
NMD	predicted	premature termination codon in exon 19 of 22
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.7	GERP 2.7, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: ANO5
Protein: p.Phe690fs
Coding: c.2069_2070del
MANE Select: NM_213599
Type: Deletion
Location: chr11:22272821 (GRCh38)
Gene constraint: LOEUF 1.034 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 82.22
Residue 690: a UniProt-annotated variant site (in lgmdr12); a UniProt-annotated variant site (in lgmdr12; uncertain significance)

Full ANO5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

ANO5-related disorder — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

ANO5 p.Phe507fs Pathogenic ★★ same condition
ANO5 c.1119+1G>T Pathogenic/Likely pathogenic ★★ same condition
ANO5 c.762+1G>A Pathogenic/Likely pathogenic ★★ same condition
ANO5 p.Arg404Ter Pathogenic/Likely pathogenic ★★ same condition
ANO5 p.Gln421Ter Likely pathogenic ★★ same condition
ANO5 p.Met833Lys Pathogenic/Likely pathogenic ★★ same condition
ANO5 p.Ser555Ile Pathogenic/Likely pathogenic ★★ same condition
ANO5 c.1631-2A>G Likely 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/ano5-p-phe690fs (accessed [today's date]).

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