CCDC34

protein-coding

coiled-coil domain containing 34

Gene summary

Involved in spermatogenesis. Located in sperm flagellum and sperm head-tail coupling apparatus. Implicated in spermatogenic failure 76. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_030771.2

Inheritance

ClinVar variants

P:3U:45B:2

Top phenotype

Spermatogenic failure 76

gnomAD constraint

pLI —, LoF o/e 0.62

Max pathogenic AF

—

Genomic locus

chr11:27,330,827-27,363,234

External References & Databases

Ensembl (ENSG00000109881)

Transcript & Mutation Effects

hg38 • Region Span ~32.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

spermatogenic failure 76LIMITED

Inheritance Pattern: Unknown

Disease ID:MONDO:0031077

Submitter: Labcorp Genetics (formerly Invitae)

Clinical Genomic Database (CGD)

Spermatogenic failure 76AR

Manifestation: Genitourinary

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 34348960

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CCDC34 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 38

Spermatogenic failure 76Total: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_030771.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			38 clinvar	2 clinvar		40
nonsense						0
start loss			1 clinvar			1
frameshift	2 clinvar	1 clinvar	2 clinvar			5
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	2	1	45	2	0	50

Highest pathogenic variant AF is 0.00069265644

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_030771.2	RefSeq	NP_110398.1	6	MANE Select
ENST00000328697.11	Ensembl	ENSP00000330240.5	6	MANE Select
NM_080654.3	RefSeq	NP_542385.1	3	Standard
ENST00000317945.6	Ensembl	ENSP00000321563.6	3	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000328697
Coding exons: 6
Length: 33042
Individuals with no LoFs: 125715
Homozygous LoFs: 0
Heterozygous LoFs: 32
Defined: 125747
p: 0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.263	200	190	1.05	0.00000928	2451
Missense (PolyPhen)		55	55.804	0.98559		832
Synonymous	0.452	63	67.7	0.930	0.00000318	649
Loss of Function	1.49	11	17.8	0.618	7.51e-7	251

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00049	0.00049	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00033	0.00033	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00013	0.00012	rare
South Asian	0.000035	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Disease: DISEASE: Note=A chromosomal aberration involving CCDC34 is found in a patient with hamartoma of the retinal pigment epithelium and retina. Translocation t(11;18) (p13;p11.2). {ECO:0000269|PubMed:11173847}.;

Recessive Scores

pRec: 0.0956

Intolerance Scores

LoFtool: 0.842
RVIS EVS: 1.11
RVIS percentile EVS: 91.99

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.132

Gene Damage Prediction

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