CCDC198

coiled-coil domain containing 198

Basic information

Region (hg38): 14:57469299-57493867

Previous symbols: [ "C14orf105" ]

Links

ENSG00000100557 ∙ NCBI:55195 ∙ ∙ HGNC:20189 ∙ Uniprot:Q9NVL8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCDC198 gene.

• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC198 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense					1	1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	1

Variants in CCDC198

This is a list of pathogenic ClinVar variants found in the CCDC198 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-57471447-C-T		not specified	Uncertain significance (Sep 01, 2021)
14-57471507-G-A		not specified	Uncertain significance (Jun 18, 2021)
14-57471527-A-G		not specified	Uncertain significance (Oct 21, 2021)
14-57471565-C-G		not specified	Uncertain significance (Oct 26, 2021)
14-57480686-A-T		not specified	Uncertain significance (Aug 30, 2021)
14-57480703-G-A		not specified	Benign (Nov 06, 2015)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC198	protein_coding	protein_coding	ENST00000216445	6	24567

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000517	0.973	125604	0	140	125744	0.000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0714	149	151	0.984	0.00000711	1960
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000567	0.000567
Ashkenazi Jewish	0.00823	0.00827
East Asian	0.000435	0.000435
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000256	0.000255
Middle Eastern	0.000435	0.000435
South Asian	0.0000327	0.0000327
Other	0.000652	0.000652

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.53
• rvis_percentile_EVS: 80.82

Haploinsufficiency Scores

• pHI: 0.733
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: ccdc198

Gene ontology

• Molecular function: protein binding