CFAP276

protein-coding

cilia and flagella associated protein 276

Gene summary

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C1orf194

MANE transcript

NM_001245025.3

Inheritance

ClinVar variants

U:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.05

Max pathogenic AF

—

Genomic locus

chr1:109,105,951-109,113,857

External References & Databases

Ensembl (ENSG00000179902)

Transcript & Mutation Effects

hg38 • Region Span ~7.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

Charcot-Marie-Tooth diseaseLIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0015626

Submitter: Ambry Genetics

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CFAP276 variants in ClinVar

2 Conditions Cataloged

not providedTotal: 4

not specifiedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001245025.3. 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			4 clinvar			4
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	6	0	0	6

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001245025.3	RefSeq	NP_001231954.1	5	MANE Select
ENST00000369948.8	Ensembl	ENSP00000358964.3	5	MANE Select
NM_001122961.3	RefSeq	NP_001116433.1	5	Standard
NM_001366200.3	RefSeq	NP_001353129.1	5	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000369949
Coding exons: 5
Length: 7907
Individuals with no LoFs: 123919
Homozygous LoFs: 6
Heterozygous LoFs: 665
Defined: 124590
p: 0.00270

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.961	62	87.3	0.711	0.00000430	1017
Missense (PolyPhen)		23	26.838	0.85699		323
Synonymous	-0.172	33	31.8	1.04	0.00000154	297
Loss of Function	-0.133	8	7.60	1.05	3.19e-7	98

Population LoF Frequency

Population	CAF	p-value	Status
African	0.034	0.034	notable
Latino/Admixed American	0.0035	0.0034	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00016	0.00016	rare
South Asian	0.00033	0.00033	rare
Other	0.00067	0.00066	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.556
RVIS EVS: 0.99
RVIS percentile EVS: 90.52

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