Is BTK c.310dupG pathogenic?

BTK c.310dupG is classified Pathogenic in BTK (ClinVar, Single submitter, 1 submitter; last evaluated 2024-06-04). Associated with Bruton-type agammaglobulinemia.

What condition is associated with BTK c.310dupG?

BTK c.310dupG is associated with Bruton-type agammaglobulinemia (ClinVar).

How is Non-syndromic agammaglobulinemia inherited?

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

BTK c.310dupG

VCV3339749

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Conditions

Bruton-type agammaglobulinemia

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 11	GERP 3.3, phastCons 1
Non-coding constraint	—	not assessed · autosomes only, so chrX has no window · absence ≠ unconstrained

Variant & gene context

Gene: BTK
Coding: c.310dupG
MANE Select: NM_000061
Type: Duplication
Location: chrX:101370078 (GRCh38)
Structure: AlphaFold pLDDT 84.95 · 170 PDB

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

Disease context

Bruton-type agammaglobulinemia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Non-syndromic agammaglobulinemia (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Onset: Infancy, Neonatal
Prevalence: 1-9 / 1 000 000 (Worldwide)

Similar variants

BTK p.Tyr241fs Pathogenic ★★ same condition
BTK c.241_260dup Likely pathogenic ★ same condition
BTK p.Arg618fs Likely pathogenic ★ same condition
BTK p.Ile331fs Pathogenic ★ same condition
BTK p.Lys573fs Likely pathogenic ★ same condition
BTK p.Met596fs Pathogenic ★ same condition
BTK p.Pro187fs Pathogenic ★ same condition
BTK p.Tyr591fs 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/btk-c-310dupg (accessed [today's date]).

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