CCDC57

protein-coding

coiled-coil domain containing 57

Gene summary

Involved in several processes, including G2/M transition of mitotic cell cycle; cilium assembly; and microtubule cytoskeleton organization. Located in centriolar satellite; centriole; and spindle microtubule. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001394669.1

Inheritance

—

ClinVar variants

U:141B:21

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.75

Max pathogenic AF

—

Genomic locus

chr17:82,101,460-82,212,878

External References & Databases

Ensembl (ENSG00000176155)

Transcript & Mutation Effects

hg38 • Region Span ~111.4 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 CCDC57 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 149

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001394669.1. 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				4 clinvar		4
missense			136 clinvar	17 clinvar		153
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	141	21	0	162

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 68 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001394669.1	RefSeq	NP_001381598.1	18	MANE Select
ENST00000694881.1	Ensembl	ENSP00000511565.1	18	MANE Select
NM_001316321.3	RefSeq	NP_001303250.1	13	Standard
NM_001367828.2	RefSeq	NP_001354757.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000392343
Coding exons: 13
Length: 111371
Individuals with no LoFs: 124589
Homozygous LoFs: 0
Heterozygous LoFs: 98
Defined: 124687
p: 0.000393

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.451	421	448	0.940	0.0000283	4808
Missense (PolyPhen)		109	115.8	0.94127		1506
Synonymous	1.74	160	191	0.840	0.0000122	1520
Loss of Function	1.46	29	38.8	0.747	0.00000220	399

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00026	0.00026	rare
Latino/Admixed American	0.0013	0.0013	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00062	0.00061	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00024	0.00024	rare
South Asian	0.000099	0.000098	rare
Other	0.0010	0.00099	rare

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.264

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High