CCDC178

protein-coding

coiled-coil domain containing 178

Gene summary

Predicted to be involved in spermatid development. Located in ciliary basal body. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C18orf34

MANE transcript

NM_001105528.4

Inheritance

—

ClinVar variants

U:116B:16

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.86

Max pathogenic AF

—

Genomic locus

chr18:32,937,402-33,441,101

External References & Databases

Ensembl (ENSG00000166960)

Transcript & Mutation Effects

hg38 • Region Span ~503.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CCDC178 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 124

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001105528.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	2 clinvar		4
missense			111 clinvar	14 clinvar		125
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	116	16	0	132

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 28 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001105528.4	RefSeq	NP_001098998.1	21	MANE Select
ENST00000383096.8	Ensembl	ENSP00000372576.3	21	MANE Select
NM_001308126.3	RefSeq	NP_001295055.1	22	Standard
NM_001371120.1	RefSeq	NP_001358049.1	22	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000383096
Coding exons: 21
Length: 503700
Individuals with no LoFs: 125269
Homozygous LoFs: 0
Heterozygous LoFs: 471
Defined: 125740
p: 0.00187

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.547	423	393	1.08	0.0000184	5745
Missense (PolyPhen)		100	96.438	1.0369		1495
Synonymous	1.75	106	132	0.806	0.00000625	1434
Loss of Function	0.903	39	45.6	0.856	0.00000206	667

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00094	0.00092	rare
Latino/Admixed American	0.00059	0.00058	rare
Ashkenazi Jewish	0.00080	0.00079	rare
East Asian	0.00029	0.00027	rare
Finnish	0.00023	0.00023	rare
European (Non-Finnish)	0.0035	0.0034	notable
South Asian	0.00068	0.00065	rare
Other	0.0015	0.0015	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 1.45
RVIS percentile EVS: 95.15

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium