CCDC68

protein-coding

coiled-coil domain containing 68

Gene summary

Involved in intracellular protein localization and microtubule anchoring at centrosome. Located in centriole. Part of centriolar subdistal appendage. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_025214.3

Inheritance

—

ClinVar variants

P:1U:46B:1

Top phenotype

Recurrent spontaneous abortion

gnomAD constraint

pLI —, LoF o/e 0.96

Max pathogenic AF

—

Genomic locus

chr18:54,901,509-54,959,461

External References & Databases

Ensembl (ENSG00000166510)

Transcript & Mutation Effects

hg38 • Region Span ~58.0 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 CCDC68 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 43

Recurrent spontaneous abortionTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_025214.3. 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						0
missense			46 clinvar	1 clinvar		47
nonsense						0
start loss						0
frameshift		1 clinvar				1
splice donor/acceptor (+/-2bp)						0
Total	0	1	46	1	0	48

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 66 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_025214.3	RefSeq	NP_079490.1	10	MANE Select
ENST00000591504.6	Ensembl	ENSP00000466690.1	10	MANE Select
NM_001143829.2	RefSeq	NP_001137301.1	10	Standard
ENST00000337363.8	Ensembl	ENSP00000337209.3	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

protein localization
microtubule anchoring at centrosome
intracellular signal transduction

Molecular Function

protein binding

Cellular Component

centriole
centriolar subdistal appendage

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000591504
Coding exons: 10
Length: 58000
Individuals with no LoFs: 125656
Homozygous LoFs: 0
Heterozygous LoFs: 92
Defined: 125748
p: 0.000366

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.182	168	161	1.04	0.00000774	2216
Missense (PolyPhen)		30	36.64	0.81877		542
Synonymous	0.394	55	58.8	0.935	0.00000298	581
Loss of Function	0.156	19	19.7	0.962	9.01e-7	254

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00018	0.00017	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00022	0.00022	rare
Finnish	0.00023	0.00023	rare
European (Non-Finnish)	0.00053	0.00053	rare
South Asian	0.00039	0.00039	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC120, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly (PubMed:28422092). {ECO:0000269|PubMed:28422092}.;

Recessive Scores

pRec: 0.0838

Intolerance Scores

LoFtool: 0.973
RVIS EVS: 0.53
RVIS percentile EVS: 80.82

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0820

Gene Damage Prediction

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