CCDC198

protein-coding

coiled-coil domain containing 198

Gene summary

Predicted to be involved in energy homeostasis. Predicted to be part of cytoplasmic vesicle and plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]

Previous symbols:

C14orf105

MANE transcript

NM_018168.4

Inheritance

—

ClinVar variants

U:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.48

Max pathogenic AF

—

Genomic locus

chr14:57,469,300-57,493,867

External References & Databases

Ensembl (ENSG00000100557)

Transcript & Mutation Effects

hg38 • Region Span ~24.6 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 CCDC198 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018168.4. 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						0
missense			5 clinvar			5
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	6	0	0	6

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 55 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018168.4	RefSeq	NP_060638.2	6	MANE Select
ENST00000216445.8	Ensembl	ENSP00000216445.3	6	MANE Select
NM_001283056.2	RefSeq	NP_001269985.1	7	Standard
NM_001283057.2	RefSeq	NP_001269986.1	6	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: ENST00000216445
Coding exons: 6
Length: 24567
Individuals with no LoFs: 125604
Homozygous LoFs: 0
Heterozygous LoFs: 140
Defined: 125744
p: 0.000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0714	149	151	0.984	0.00000711	1960
Missense (PolyPhen)		41	37.017	1.1076		513
Synonymous	-1.03	60	50.6	1.18	0.00000229	517
Loss of Function	1.97	8	16.7	0.480	9.86e-7	186

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.00032	0.00029	rare
Ashkenazi Jewish	0.0082	0.0083	notable
East Asian	0.00044	0.00044	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00026	0.00025	rare
South Asian	0.000033	0.000033	rare
Other	0.00065	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.53
RVIS percentile EVS: 80.82

Essentials

Essential (gene trap): N