CCDC32

coiled-coil domain containing 32

Basic information

Region (hg38): 15:40528683-40565054

Previous symbols: [ "C15orf57" ]

Links

ENSG00000128891 ∙ NCBI:90416 ∙ OMIM:618941 ∙ HGNC:28295 ∙ Uniprot:Q9BV29 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• syndromic intellectual disability (Supportive), mode of inheritance: AD
• cardiofacioneurodevelopmental syndrome (Moderate), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Cardiofacioneurodevelopmental syndrome	AR	Cardiovascular	Individuals have been described with congenital heart anomalies, including valvulvar defects, and awareness may allow early diagnosis and management of these issues	Cardiovascular; Craniofacial; Musculoskeletal; Neurologic	32307552

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCDC32 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCDC32 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			2			2
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	3	1	0

Variants in CCDC32

This is a list of pathogenic ClinVar variants found in the CCDC32 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-40554000-C-G			Uncertain significance (Feb 01, 2022)
15-40554058-A-T		Cardiofacioneurodevelopmental syndrome	Uncertain significance (Mar 30, 2023)
15-40562852-T-TCC		Cardiofacioneurodevelopmental syndrome	Pathogenic (Dec 09, 2020)
15-40562883-C-G		not specified	Uncertain significance (Aug 13, 2021)
15-40562988-T-TA		Cardiofacioneurodevelopmental syndrome	Pathogenic (Dec 09, 2020)
15-40564766-A-G			Likely benign (Jul 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCDC32	protein_coding	protein_coding	ENST00000558750	4	36375

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.388	0.603	125733	0	13	125746	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.769	80	102	0.786	0.00000486	1267
Missense in Polyphen		24	38.394	0.62509		502
Synonymous	1.58	26	38.5	0.676	0.00000201	368
Loss of Function	2.20	2	9.19	0.218	4.56e-7	106

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000904	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000879	0.0000879
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.64

Haploinsufficiency Scores

• pHI: 0.0609
• hipred: N
• hipred_score: 0.367
• ghis: 0.585

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Ccdc32

Gene ontology

• Molecular function: protein binding