CFAP298-TCP10L

CFAP298-TCP10L readthrough

Basic information

Region (hg38): 21:32402511-32612865

Previous symbols: [ "LINC00846", "C21orf77" ]

Links

ENSG00000265590 ∙ NCBI:110091775 ∙ ∙ HGNC:54636 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CFAP298-TCP10L gene.

• not provided (5 variants)
• Primary ciliary dyskinesia 26 (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CFAP298-TCP10L gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	27	2	30
missense			42	4		46
nonsense		1				1
start loss						0
frameshift	2				1	3
splice donor/acceptor (+/-2bp)		1				1
Total	2	2	43	31	3

Highest pathogenic variant AF is 0.000210054

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CFAP298-TCP10L	protein_coding	protein_coding	ENST00000553001	7	33460

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000119	0.821	125636	0	111	125747	0.000441

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.493	152	170	0.894	0.00000939	1934
Missense in Polyphen		40	52.923	0.75581		601
Synonymous	-0.602	78	71.5	1.09	0.00000467	555
Loss of Function	1.40	12	18.5	0.648	0.00000104	197

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00112	0.00112
Ashkenazi Jewish	0.00	0.00
East Asian	0.000217	0.000217
Finnish	0.000554	0.000554
European (Non-Finnish)	0.000520	0.000510
Middle Eastern	0.000217	0.000217
South Asian	0.000392	0.000392
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP