Is CHRNB2 p.361LR[3] (c.1088_1093dup) pathogenic?

CHRNB2 p.361LR[3] (c.10881093dup) is classified Uncertain significance in CHRNB2 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-05-29). Absent from gnomAD; Associated with familial sleep-related hypermotor epilepsy.

What condition is associated with CHRNB2 p.361LR[3] (c.1088_1093dup)?

CHRNB2 p.361LR[3] (c.1088_1093dup) is associated with familial sleep-related hypermotor epilepsy (ClinVar).

How common is CHRNB2 p.361LR[3] (c.1088_1093dup) in the general population?

CHRNB2 p.361LR[3] (c.1088_1093dup) is absent from gnomAD (gnomAD).

How is Sleep-related hypermotor epilepsy inherited?

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

CHRNB2 p.361LR[3]

c.1088_1093dup · rs2101521963 · VCV1468260

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

familial sleep-related hypermotor epilepsy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.16	GERP 0.63, phastCons 0.006
Region caveats
Repeat context	tandem	(TGCGCC)n simple repeat · ambiguous alignment · confidence, not pathogenicity

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: CHRNB2
Protein: p.361LR[3]
Coding: c.1088_1093dup
MANE Select: NM_000748
dbSNP: rs2101521963
Type: Duplication
Location: chr1:154571909 (GRCh38)
Gene constraint: LOEUF 1.116 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 81.16 · 15 PDB

Full CHRNB2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

familial sleep-related hypermotor epilepsy — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Sleep-related hypermotor epilepsy (Orphanet):

Inheritance: Autosomal dominant
Onset: Adolescent, Adult, Childhood

Similar variants

CHRNB2 p.Ile283fs Uncertain significance ★★ same condition
CHRNB2 p.Ala408_Pro409insAla Uncertain significance ★ same condition
CHRNB2 p.Arg174fs Uncertain significance ★ same condition
CHRNB2 p.Arg366_Gln367insArg Uncertain significance ★ same condition
CHRNB2 p.Gly414fs Uncertain significance ★ same condition
CHRNB2 p.Leu11fs Uncertain significance ★ same condition
CHRNB2 p.Val287Leu Pathogenic/Likely pathogenic ★★ same condition
CHRNB2 p.Val287Met 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/chrnb2-p-361lr-3 (accessed [today's date]).

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