CFAP70

cilia and flagella associated protein 70, the group of Cilia and flagella associated|Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 10:73253762-73358864

Previous symbols: [ "TTC18" ]

Links

ENSG00000156042 ∙ NCBI:118491 ∙ OMIM:618661 ∙ HGNC:30726 ∙ Uniprot:Q5T0N1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• non-syndromic male infertility due to sperm motility disorder (Supportive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Spermatogenic failure 41	AR	General	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	Genitourinary	31621862

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CFAP70 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP70 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			54	1		55
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	54	1	0

Variants in CFAP70

This is a list of pathogenic ClinVar variants found in the CFAP70 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-73254007-C-T		not specified	Uncertain significance (Feb 22, 2025)
10-73256409-C-T		not specified	Uncertain significance (Sep 16, 2021)
10-73256410-G-A		not specified	Uncertain significance (Jul 02, 2024)
10-73269706-G-A		not specified	Uncertain significance (Dec 12, 2024)
10-73272930-G-A		not specified	Uncertain significance (Jul 16, 2024)
10-73274507-T-A		not specified	Uncertain significance (Mar 17, 2023)
10-73274570-C-T		not specified	Uncertain significance (Jan 17, 2024)
10-73274578-C-T		not specified	Uncertain significance (Feb 17, 2024)
10-73275466-C-A		not specified	Uncertain significance (May 16, 2023)
10-73275486-G-A		not specified	Uncertain significance (Dec 03, 2024)
10-73275535-A-C		not specified	Uncertain significance (Jul 27, 2021)
10-73277269-G-A		not specified	Uncertain significance (Dec 09, 2023)
10-73277310-T-C		not specified	Uncertain significance (Dec 20, 2023)
10-73277323-G-T		not specified	Uncertain significance (Jun 18, 2021)
10-73277349-C-T		not specified	Uncertain significance (Apr 12, 2024)
10-73278184-T-G		not specified	Uncertain significance (Dec 02, 2024)
10-73278242-A-G		not specified	Uncertain significance (Feb 11, 2022)
10-73291243-T-C		not specified	Uncertain significance (Apr 12, 2022)
10-73291247-T-C		not specified	Uncertain significance (Sep 26, 2023)
10-73291262-C-G		not specified	Uncertain significance (Jul 09, 2024)
10-73291267-G-A		not specified	Uncertain significance (Sep 20, 2023)
10-73291268-T-C		not specified	Uncertain significance (Mar 08, 2025)
10-73291330-G-C		not specified	Uncertain significance (Jan 19, 2024)
10-73291399-G-T		not specified	Uncertain significance (Jun 22, 2024)
10-73291411-C-T		CFAP70-related condition	Likely benign (May 18, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP70	protein_coding	protein_coding	ENST00000310715	27	105101

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.87e-8	1.00	125680	0	68	125748	0.000270

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.12	428	570	0.750	0.0000273	7321
Missense in Polyphen		172	246.52	0.69771		3146
Synonymous	0.194	200	204	0.983	0.00000965	2128
Loss of Function	4.54	24	62.9	0.382	0.00000298	808

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000750	0.000748
Ashkenazi Jewish	0.00	0.00
East Asian	0.000220	0.000217
Finnish	0.000509	0.000508
European (Non-Finnish)	0.000221	0.000220
Middle Eastern	0.000220	0.000217
South Asian	0.000199	0.000196
Other	0.000490	0.000489

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.29
• rvis_percentile_EVS: 71.62

Haploinsufficiency Scores

• pHI: 0.108
• hipred: N
• hipred_score: 0.475
• ghis: 0.484

Mouse Genome Informatics

• Gene name: Cfap70

Gene ontology

• Biological process: biological_process
• Cellular component: cilium;extracellular exosome
• Molecular function: molecular_function