Is ANO5 p.Phe386fs (c.1158del) pathogenic?

ANO5 p.Phe386fs (c.1158del) is classified Pathogenic in ANO5 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-02-11). Absent from gnomAD; Associated with Miyoshi muscular dystrophy 3.

What condition is associated with ANO5 p.Phe386fs (c.1158del)?

ANO5 p.Phe386fs (c.1158del) is associated with Miyoshi muscular dystrophy 3, autosomal recessive limb-girdle muscular dystrophy type 2L (ClinVar).

How common is ANO5 p.Phe386fs (c.1158del) in the general population?

ANO5 p.Phe386fs (c.1158del) is absent from gnomAD (gnomAD).

How is Distal anoctaminopathy inherited?

Typically Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

ANO5 p.Phe386fs

c.1158del · rs1564936489 · VCV619026

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Miyoshi muscular dystrophy 3

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 12 of 22
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.2	GERP 1.8, phastCons 1

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

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: ANO5
Protein: p.Phe386fs
Coding: c.1158del
MANE Select: NM_213599
dbSNP: rs1564936489
Type: Deletion
Location: chr11:22250987 (GRCh38)
Gene constraint: LOEUF 1.034 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 82.22

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

Disease context

Miyoshi muscular dystrophy 3 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: autosomal recessive limb-girdle muscular dystrophy type 2L

For Distal anoctaminopathy (Orphanet):

Inheritance: Autosomal recessive
Onset: Adolescent, Adult

Similar variants

ANO5 p.Lys102fs Pathogenic ★★★ same condition
ANO5 p.Phe835del Likely pathogenic ★★★ same condition
ANO5 c.139-1del Uncertain significance ★★★ same condition
ANO5 c.2236-21_2236-17del Likely benign ★★★ same condition
ANO5 c.364-8del Benign ★★★ same condition
ANO5 c.1631-12_1631-2del Pathogenic/Likely pathogenic ★★ same condition
ANO5 p.Ala144fs Pathogenic ★★ same condition
ANO5 p.Ala724_His725insTer 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-phe386fs (accessed [today's date]).

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