Is CA8 p.Gln244fs (c.730dup) pathogenic?

CA8 p.Gln244fs (c.730dup) is classified Likely pathogenic in CA8 (ClinVar, Single submitter, 1 submitter; last evaluated 2016-01-01). Absent from gnomAD; Associated with cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3.

What condition is associated with CA8 p.Gln244fs (c.730dup)?

CA8 p.Gln244fs (c.730dup) is associated with cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 (ClinVar).

How common is CA8 p.Gln244fs (c.730dup) in the general population?

CA8 p.Gln244fs (c.730dup) is absent from gnomAD (gnomAD).

How is Dysequilibrium syndrome inherited?

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

CA8 p.Gln244fs

c.730dup · rs1807291595 · VCV931983

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 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 7 of 9
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.9	GERP 2.5, 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: CA8
Protein: p.Gln244fs
Coding: c.730dup
MANE Select: NM_004056
dbSNP: rs1807291595
Type: Duplication
Location: chr8:60222656 (GRCh38)
Gene constraint: LOEUF 0.698 · pLI 0.24 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 90.51 · 1 PDB
Residue 244: the alpha-carbonic anhydrase domain; an α-helix

Full CA8 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 3 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Dysequilibrium syndrome (Orphanet):

Inheritance: Autosomal recessive
Onset: Neonatal
Prevalence: <1 / 1 000 000 (Worldwide)

Similar variants

CA8 c.100+85T>C Benign ★★ same condition
CA8 c.-103T>C Benign ★★ same condition
CA8 c.-54A>C Benign ★★ same condition
CA8 p.Glu109= Benign ★★ same condition
CA8 p.Arg275Trp Likely pathogenic ★ same condition
CA8 p.Asn84Thr Likely pathogenic ★ same condition
CA8 p.Lys159Ter Likely pathogenic ★ same condition
CA8 p.Trp233Cys Uncertain significance ★ ⚠ 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/ca8-p-gln244fs (accessed [today's date]).

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