C1orf94

protein-coding

chromosome 1 open reading frame 94

Gene summary

Predicted to act upstream of or within several processes, including mRNA destabilization; single fertilization; and spermatid development. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001134734.2

Inheritance

—

ClinVar variants

U:7B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.33

Max pathogenic AF

—

Genomic locus

chr1:34,166,883-34,219,131

External References & Databases

Ensembl (ENSG00000142698)

Transcript & Mutation Effects

hg38 • Region Span ~52.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to C1orf94 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 7

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001134734.2. 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			1 clinvar	1 clinvar		2
missense			6 clinvar	1 clinvar		7
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	7	2	0	9

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001134734.2	RefSeq	NP_001128206.1	7	MANE Select
ENST00000488417.2	Ensembl	ENSP00000435634.1	7	MANE Select
NM_032884.5	RefSeq	NP_116273.2	6	Standard
ENST00000373374.7	Ensembl	ENSP00000362472.3	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000488417
Coding exons: 7
Length: 52249
Individuals with no LoFs: 125558
Homozygous LoFs: 1
Heterozygous LoFs: 189
Defined: 125748
p: 0.000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.252	319	332	0.961	0.0000173	3874
Missense (PolyPhen)		79	90.228	0.87556		1254
Synonymous	0.686	130	140	0.926	0.00000827	1229
Loss of Function	3.07	8	24.4	0.329	0.00000127	271

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00012	0.00012	rare
Latino/Admixed American	0.00098	0.00098	rare
Ashkenazi Jewish	0.0089	0.0089	notable
East Asian	0.0013	0.0013	notable
Finnish	0.000048	0.000046	rare
European (Non-Finnish)	0.00024	0.00024	rare
South Asian	0.00033	0.00029	rare
Other	0.00082	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0796

Intolerance Scores

LoFtool: 0.848
RVIS EVS: 1.09
RVIS percentile EVS: 91.87

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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