CERNA1

competing endogenous lncRNA 1 for miR-4707-5p and miR-4767, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Region (hg38): 15:52179997-52230123

Links

ENSG00000259577 ∙ NCBI:100129973 ∙ ∙ HGNC:52664 ∙ ∙ ∙ 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 CERNA1 gene.

• Inborn genetic diseases (12 variants)
• not provided (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CERNA1 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)						0
splice region						0
non coding		1	11	5	5	22
Total	0	1	11	5	5

Highest pathogenic variant AF is 0.0000460

Variants in CERNA1

This is a list of pathogenic ClinVar variants found in the CERNA1 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-52180076-G-C			Benign (Sep 04, 2018)
15-52180219-G-T			Likely benign (Sep 11, 2018)
15-52180263-C-G			Likely benign (Sep 20, 2018)
15-52184283-C-A			Benign (Apr 08, 2019)
15-52184587-A-G			Likely benign (Mar 29, 2018)
15-52184616-G-A		Gnb5-related intellectual disability-cardiac arrhythmia syndrome	Pathogenic/Likely pathogenic (Mar 27, 2024)
15-52184651-T-C		Inborn genetic diseases	Uncertain significance (Aug 16, 2022)
15-52184655-C-T		Inborn genetic diseases • GNB5-related disorder	Likely benign (Jun 01, 2024)
15-52184663-G-A		Inborn genetic diseases	Uncertain significance (Feb 22, 2023)
15-52184964-T-C			Benign (Sep 22, 2018)
15-52185005-A-G			Likely benign (Sep 22, 2018)
15-52185013-C-T			Benign (Mar 29, 2019)
15-52191368-A-G			Benign (Oct 15, 2019)
15-52193943-T-C		not specified	Uncertain significance (Jul 25, 2023)
15-52193970-A-G		not specified	Uncertain significance (Jun 07, 2023)
15-52194038-C-T		not specified	Uncertain significance (Dec 14, 2021)
15-52195385-T-G		not specified	Uncertain significance (May 17, 2023)
15-52196346-T-C		not specified	Uncertain significance (Dec 27, 2023)
15-52204935-C-G		not specified	Uncertain significance (Aug 30, 2022)
15-52204966-C-A		not specified	Uncertain significance (Oct 22, 2021)
15-52204999-C-G		not specified	Uncertain significance (Feb 14, 2024)
15-52205052-C-T		not specified	Uncertain significance (Apr 07, 2022)
15-52205057-G-C		not specified	Uncertain significance (Mar 19, 2024)
15-52205132-T-G		not specified	Uncertain significance (Nov 03, 2023)
15-52205144-G-A		not specified	Uncertain significance (Oct 29, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP