CCDC102B

protein-coding

coiled-coil domain containing 102B

Gene summary

Enables protein serine/threonine kinase binding activity. Involved in centriole-centriole cohesion. Located in centriole. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C18orf14
ACY1L

MANE transcript

NM_024781.3

Inheritance

—

ClinVar variants

U:87B:12

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.93

Max pathogenic AF

—

Genomic locus

chr18:68,715,209-69,055,189

External References & Databases

Ensembl (ENSG00000150636)

Transcript & Mutation Effects

hg38 • Region Span ~340.0 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 CCDC102B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 86

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024781.3. 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				2 clinvar	1 clinvar	3
missense			84 clinvar	5 clinvar	4 clinvar	93
nonsense			3 clinvar			3
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	87	7	5	99

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 51 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024781.3	RefSeq	NP_079057.3	7	MANE Select
ENST00000360242.9	Ensembl	ENSP00000353377.5	7	MANE Select
NM_001093729.2	RefSeq	NP_001087198.2	7	Standard
ENST00000578970.5	Ensembl	ENSP00000461987.1	1	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: ENST00000360242
Coding exons: 7
Length: 339981
Individuals with no LoFs: 125280
Homozygous LoFs: 1
Heterozygous LoFs: 467
Defined: 125748
p: 0.00186

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.551	280	255	1.10	0.0000129	3384
Missense (PolyPhen)		67	56.09	1.1945		833
Synonymous	0.747	82	91.1	0.900	0.00000442	881
Loss of Function	0.354	25	27.0	0.927	0.00000146	331

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0013	0.0013	notable
Latino/Admixed American	0.00080	0.00078	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00094	0.00092	rare
Finnish	0.0033	0.0033	notable
European (Non-Finnish)	0.0028	0.0027	notable
South Asian	0.00053	0.00052	rare
Other	0.0021	0.0020	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0854

Intolerance Scores

LoFtool: 0.958
RVIS EVS: 1.82
RVIS percentile EVS: 97.02

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0584

Gene Damage Prediction

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