Menu
GeneBe

CCDC152

coiled-coil domain containing 152

Basic information

Region (hg38): 5:42756817-42802439

Links

ENSG00000198865NCBI:100129792HGNC:34438Uniprot:Q4G0S7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCDC152 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC152 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
14
clinvar
1
clinvar
15
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
7
clinvar
1
clinvar
1
clinvar
9
Total 0 0 21 2 1

Variants in CCDC152

This is a list of pathogenic ClinVar variants found in the CCDC152 region.

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

Position Type Phenotype Significance ClinVar
5-42759144-G-A not specified Uncertain significance (Jun 17, 2022)2399503
5-42759197-C-A not specified Uncertain significance (Aug 18, 2023)2601917
5-42762455-A-G not specified Uncertain significance (Dec 09, 2023)3138544
5-42762459-A-G not specified Likely benign (Aug 02, 2022)2399195
5-42762537-C-T not specified Uncertain significance (May 18, 2022)2290315
5-42779458-G-A not specified Uncertain significance (Nov 29, 2021)2220726
5-42779473-T-C not specified Uncertain significance (Dec 03, 2021)2263495
5-42779483-T-A not specified Uncertain significance (May 26, 2022)2215680
5-42783493-C-A not specified Uncertain significance (Aug 05, 2021)2241472
5-42783575-A-C not specified Uncertain significance (May 23, 2023)2531350
5-42799432-G-A not specified Uncertain significance (Feb 28, 2023)2490285
5-42799696-T-C not specified Uncertain significance (Aug 17, 2022)2370232
5-42799708-G-A not specified Uncertain significance (Aug 02, 2022)2218220
5-42799716-A-G not specified Uncertain significance (Aug 22, 2023)2602259
5-42799764-A-G not specified Uncertain significance (Aug 02, 2022)2304711
5-42800763-C-T not specified Uncertain significance (Sep 20, 2023)3159606
5-42800785-T-C not specified Uncertain significance (Dec 13, 2023)3159605
5-42800806-T-G not specified Uncertain significance (May 25, 2022)3159604
5-42800976-G-C not specified Uncertain significance (Apr 07, 2022)3159615
5-42800982-A-G not specified Likely benign (Sep 16, 2021)3159614
5-42801176-T-C Benign (May 31, 2018)783435
5-42801259-G-A not specified Uncertain significance (Nov 22, 2021)3159613
5-42801261-G-A not specified Uncertain significance (May 31, 2023)2527084
5-42801304-G-A not specified Uncertain significance (Jun 06, 2023)2511083

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CCDC152protein_codingprotein_codingENST00000361970 845560
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00003820.62500000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.186395.50.6600.000004841704
Missense in Polyphen1522.2460.67427467
Synonymous1.801729.40.5790.00000135394
Loss of Function0.810810.90.7354.62e-7214

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
rvis_EVS
0.3
rvis_percentile_EVS
71.81

Haploinsufficiency Scores

pHI
hipred
hipred_score
ghis
0.535

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.450

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ccdc152
Phenotype