Is CCDC32 p.Thr10fs (c.27dup) pathogenic?

CCDC32 p.Thr10fs (c.27dup) is classified Pathogenic in CCDC32 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2020-12-09). Absent from gnomAD; Associated with cardiofacioneurodevelopmental syndrome.

What condition is associated with CCDC32 p.Thr10fs (c.27dup)?

CCDC32 p.Thr10fs (c.27dup) is associated with cardiofacioneurodevelopmental syndrome (ClinVar).

How common is CCDC32 p.Thr10fs (c.27dup) in the general population?

CCDC32 p.Thr10fs (c.27dup) is absent from gnomAD (gnomAD).

CCDC32 p.Thr10fs

c.27dup · rs1890756020 · VCV988600

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

cardiofacioneurodevelopmental syndrome

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 2 of 4
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.7	GERP -1.6, phastCons 0.001

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: CCDC32
Protein: p.Thr10fs
Coding: c.27dup
MANE Select: NM_001080792
dbSNP: rs1890756020
Type: Duplication
Location: chr15:40562988 (GRCh38)
Gene constraint: LOEUF 0.76 · pLI 0.19 (gnomAD)
Structure: AlphaFold pLDDT 69.74

Full CCDC32 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

cardiofacioneurodevelopmental syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CCDC32 p.Glu55fs Pathogenic same condition
CCDC32 p.Tyr157Ter 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/ccdc32-p-thr10fs (accessed [today's date]).

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