SNORA31

Chr 13AD

small nucleolar RNA, H/ACA box 31

Also known as: ACA31, IIAE10, SNORA31A

NCBI Gene: 677814 ENSG00000199477 OMIM: 619378

This small nucleolar RNA is predicted to be involved in RNA processing within the nucleolus. Mutations cause susceptibility to herpes-specific acute infection-induced encephalopathy, characterized by severe brain inflammation triggered by herpes virus infections. The condition follows autosomal dominant inheritance.

OMIM ResearchSummary from RefSeq, OMIM

Predicted to be involved in RNA processing. Predicted to be located in nucleolus. Implicated in brain disease. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10}MIM #619396

Clinical highlights

Gene–disease validity (ClinGen)

Limited · encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 · AD · ClinGen 2026

not for standalone diagnostic reporting

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in SNORA31?

gnomAD v4 · ~0k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

none observed

0 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in SNORA31; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.