CCDC178

coiled-coil domain containing 178

Basic information

Region (hg38): 18:32937401-33441101

Previous symbols: [ "C18orf34" ]

Links

ENSG00000166960 ∙ NCBI:374864 ∙ ∙ HGNC:29588 ∙ Uniprot:Q5BJE1 ∙ 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 CCDC178 gene.

• Inborn genetic diseases (37 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC178 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				1		1
missense			33	5		38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	33	6	0

Variants in CCDC178

This is a list of pathogenic ClinVar variants found in the CCDC178 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-32938019-C-T		not specified	Uncertain significance (Apr 13, 2023)
18-32938064-T-C		not specified	Uncertain significance (Dec 07, 2021)
18-32974611-T-C		not specified	Uncertain significance (Jan 09, 2023)
18-33092778-T-C		not specified	Likely benign (Dec 22, 2023)
18-33092807-T-C		not specified	Uncertain significance (Dec 05, 2022)
18-33092829-T-G		not specified	Uncertain significance (Jun 11, 2021)
18-33092861-T-C		not specified	Uncertain significance (Aug 08, 2022)
18-33092876-C-A			Likely benign (Jan 01, 2023)
18-33211952-C-T		not specified	Uncertain significance (Oct 18, 2021)
18-33212012-T-C		not specified	Likely benign (Nov 18, 2022)
18-33215589-T-C		not specified	Uncertain significance (May 16, 2022)
18-33215590-C-T		not specified	Likely benign (Dec 05, 2022)
18-33215596-T-C		not specified	Uncertain significance (Sep 20, 2023)
18-33215658-G-C		not specified	Uncertain significance (Nov 13, 2023)
18-33215659-T-C		not specified	Likely benign (Feb 13, 2024)
18-33215686-A-G		not specified	Uncertain significance (Jan 10, 2023)
18-33215689-G-A		not specified	Uncertain significance (Apr 19, 2023)
18-33215694-C-T		not specified	Uncertain significance (Jul 05, 2023)
18-33223111-T-A		not specified	Uncertain significance (Aug 02, 2022)
18-33223153-A-T		not specified	Uncertain significance (Jun 01, 2022)
18-33223160-C-A		not specified	Uncertain significance (Jun 07, 2023)
18-33223168-T-C		not specified	Uncertain significance (Jul 11, 2023)
18-33224791-T-C		not specified	Uncertain significance (Dec 08, 2023)
18-33224804-T-C		not specified	Uncertain significance (Oct 31, 2022)
18-33224837-G-A		not specified	Uncertain significance (Aug 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC178	protein_coding	protein_coding	ENST00000383096	21	503700

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.45e-23	0.00874	125269	0	471	125740	0.00187

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.547	423	393	1.08	0.0000184	5745
Missense in Polyphen		100	96.438	1.0369		1495
Synonymous	1.75	106	132	0.806	0.00000625	1434
Loss of Function	0.903	39	45.6	0.856	0.00000206	667

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00153	0.00151
Ashkenazi Jewish	0.000800	0.000794
East Asian	0.000292	0.000272
Finnish	0.000234	0.000231
European (Non-Finnish)	0.00345	0.00343
Middle Eastern	0.000292	0.000272
South Asian	0.000678	0.000654
Other	0.00148	0.00147

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 1.45
• rvis_percentile_EVS: 95.15

Haploinsufficiency Scores

• pHI: 0.711
• hipred: N
• hipred_score: 0.123
• ghis: 0.380

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ccdc178
• Phenotype: normal phenotype