CEP250-AS1

CEP250 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 20:35476203-35491017

Links

ENSG00000230155 ∙ NCBI:102725201 ∙ ∙ HGNC:40143 ∙ ∙ ∙ 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 CEP250-AS1 gene.

• not provided (173 variants)
• Inborn genetic diseases (6 variants)
• Cone-rod dystrophy and hearing loss 2 (1 variants)
• Retinal dystrophy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEP250-AS1 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			3	1	1	5
splice region						0
non coding	7	1	84	70	8	170
Total	7	1	87	71	9

Highest pathogenic variant AF is 0.0000263

Variants in CEP250-AS1

This is a list of pathogenic ClinVar variants found in the CEP250-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-35476433-C-CA			Likely benign (Jul 25, 2022)
20-35476434-C-G			Likely benign (Jul 03, 2024)
20-35476434-C-T			Likely benign (Jul 25, 2022)
20-35476435-T-A			Likely benign (Apr 16, 2021)
20-35476437-T-G			Likely benign (Jul 12, 2022)
20-35476440-GT-G		CEP250-related disorder	Uncertain significance (Jul 03, 2022)
20-35476457-G-A			Likely benign (Nov 27, 2020)
20-35476461-A-C		Optic atrophy	Uncertain significance (Nov 27, 2023)
20-35476474-C-T			Uncertain significance (May 05, 2022)
20-35476475-G-A			Likely benign (Feb 02, 2021)
20-35476490-C-T			Likely benign (Nov 14, 2024)
20-35476515-C-T		not specified	Uncertain significance (Oct 21, 2024)
20-35476516-G-A			Uncertain significance (Jul 12, 2022)
20-35476550-G-A			Likely benign (May 05, 2023)
20-35476550-G-C			Uncertain significance (Dec 25, 2021)
20-35476556-G-C			Uncertain significance (May 09, 2022)
20-35476557-G-A			Uncertain significance (Apr 24, 2022)
20-35476558-C-T		Retinal dystrophy • CEP250-related disorder • Cone-rod dystrophy and hearing loss 2	Conflicting classifications of pathogenicity (Jan 27, 2023)
20-35476559-G-A			Benign (Jan 15, 2025)
20-35476565-T-C			Likely benign (Feb 05, 2022)
20-35476569-G-T			Benign (Feb 03, 2025)
20-35476573-G-T			Uncertain significance (Dec 24, 2021)
20-35476574-G-T			Likely benign (Jan 03, 2024)
20-35476584-C-A			Uncertain significance (Oct 05, 2022)
20-35476598-G-T			Uncertain significance (Dec 16, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP