CCDC186

coiled-coil domain containing 186, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 10:114120862-114174232

Previous symbols: [ "C10orf118" ]

Links

ENSG00000165813 ∙ NCBI:55088 ∙ OMIM:619249 ∙ HGNC:24349 ∙ Uniprot:Q7Z3E2 ∙ 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 CCDC186 gene.

• 10 conditions (1 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC186 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					2	2
missense			42	2		44
nonsense	1					1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	1	0	42	2	2

Variants in CCDC186

This is a list of pathogenic ClinVar variants found in the CCDC186 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-114125160-T-C		Inborn genetic diseases	Uncertain significance (Dec 26, 2023)
10-114125168-A-C		Inborn genetic diseases	Uncertain significance (Nov 21, 2024)
10-114125192-C-T		Inborn genetic diseases	Uncertain significance (Nov 21, 2024)
10-114125205-T-C		Inborn genetic diseases	Uncertain significance (Aug 09, 2021)
10-114125911-G-A		Inborn genetic diseases	Uncertain significance (Nov 28, 2024)
10-114125974-T-C		Inborn genetic diseases	Likely benign (Mar 20, 2023)
10-114126038-T-G		Inborn genetic diseases	Uncertain significance (Aug 08, 2022)
10-114127519-T-A		Inborn genetic diseases	Uncertain significance (Aug 10, 2021)
10-114127600-T-C		Inborn genetic diseases	Uncertain significance (Jan 18, 2022)
10-114127642-C-T		Inborn genetic diseases	Uncertain significance (Apr 26, 2023)
10-114127656-C-T		Inborn genetic diseases	Uncertain significance (Mar 19, 2024)
10-114129905-C-T		Inborn genetic diseases	Uncertain significance (Nov 29, 2023)
10-114129919-G-T		Inborn genetic diseases	Uncertain significance (May 31, 2023)
10-114129945-T-C		Inborn genetic diseases	Uncertain significance (Aug 02, 2021)
10-114129969-G-A			Uncertain significance (May 23, 2022)
10-114131290-T-C		Inborn genetic diseases	Uncertain significance (Feb 14, 2023)
10-114131293-A-T		Inborn genetic diseases	Uncertain significance (May 23, 2023)
10-114131988-A-G		Inborn genetic diseases	Uncertain significance (Nov 20, 2024)
10-114132011-T-A		Inborn genetic diseases	Uncertain significance (Jun 06, 2022)
10-114132054-T-C		Inborn genetic diseases	Uncertain significance (May 08, 2024)
10-114132092-T-C		Inborn genetic diseases	Uncertain significance (Oct 26, 2021)
10-114132105-C-T		Inborn genetic diseases	Uncertain significance (Oct 12, 2021)
10-114134940-G-C		Inborn genetic diseases	Uncertain significance (Jun 09, 2022)
10-114134958-A-G		Inborn genetic diseases	Uncertain significance (Sep 18, 2024)
10-114135027-C-T		Inborn genetic diseases	Uncertain significance (Jun 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC186	protein_coding	protein_coding	ENST00000369287	15	53359

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00140	0.999	125724	0	23	125747	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.57	347	439	0.790	0.0000218	5939
Missense in Polyphen		96	136.65	0.70255		1877
Synonymous	-0.0739	157	156	1.01	0.00000759	1559
Loss of Function	4.60	15	50.1	0.299	0.00000294	655

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000249	0.000248
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000583	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000887	0.0000879
Middle Eastern	0.0000583	0.0000544
South Asian	0.000165	0.000163
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0956

Intolerance Scores

• rvis_EVS: -0.31
• rvis_percentile_EVS: 32.17

Haploinsufficiency Scores

• pHI: 0.118
• hipred: N
• hipred_score: 0.440
• ghis: 0.558

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Ccdc186