CCDC30

coiled-coil domain containing 30

Basic information

Region (hg38): 1:42463221-42657190

Links

ENSG00000186409NCBI:728621HGNC:26103Uniprot:Q5VVM6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCDC30 gene.

  • not_specified (85 variants)
  • not_provided (1 variants)
  • Cardiomyopathy,_dilated,_2c (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC30 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001395517.1. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
79
clinvar
6
clinvar
85
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 79 7 0

Highest pathogenic variant AF is 0.0000243971

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CCDC30protein_codingprotein_codingENST00000428554 15191335
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.46e-170.6981256720741257460.000294
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.9063183670.8670.00001755182
Missense in Polyphen7189.5510.792841513
Synonymous1.121141300.8750.000006001316
Loss of Function1.963448.80.6970.00000267585

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007670.000762
Ashkenazi Jewish0.0001000.0000992
East Asian0.0001650.000163
Finnish0.00004620.0000462
European (Non-Finnish)0.0003560.000352
Middle Eastern0.0001650.000163
South Asian0.0004310.000425
Other0.0001710.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
0.969
rvis_EVS
0.42
rvis_percentile_EVS
77.26

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.145
ghis
0.460

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.0154

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ccdc30
Phenotype