PRKAG2-AS1

PRKAG2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 7:151876304-151879851

Links

ENSG00000239911 ∙ NCBI:100505483 ∙ ∙ HGNC:40468 ∙ ∙ ∙ 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 PRKAG2-AS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRKAG2-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)						0
splice region						0
non coding			4	1	2	7
Total	0	0	4	1	2

Variants in PRKAG2-AS1

This is a list of pathogenic ClinVar variants found in the PRKAG2-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
7-151876355-G-C			Likely benign (Jul 06, 2018)
7-151876464-G-A		not specified	Benign (Mar 03, 2015)
7-151876487-G-A		Lethal congenital glycogen storage disease of heart	Likely benign (Nov 07, 2023)
7-151876490-C-G		Lethal congenital glycogen storage disease of heart	Likely benign (Feb 25, 2024)
7-151876493-G-C		Lethal congenital glycogen storage disease of heart	Likely benign (Sep 23, 2022)
7-151876495-G-A		not specified • Wolff-Parkinson-White pattern • Hypertrophic cardiomyopathy 6 • Lethal congenital glycogen storage disease of heart • Hypertrophic cardiomyopathy • Cardiovascular phenotype	Benign (Feb 04, 2025)
7-151876504-C-T		Lethal congenital glycogen storage disease of heart • Cardiomyopathy	Uncertain significance (May 11, 2020)
7-151876505-A-C		Cardiovascular phenotype	Uncertain significance (Sep 27, 2022)
7-151876507-C-G		Lethal congenital glycogen storage disease of heart	Uncertain significance (Sep 13, 2018)
7-151876507-C-T		not specified	Likely benign (Dec 08, 2008)
7-151876508-G-A		Cardiomyopathy • Lethal congenital glycogen storage disease of heart • Cardiovascular phenotype • Hypertrophic cardiomyopathy	Uncertain significance (Aug 06, 2024)
7-151876510-A-C		Hypertrophic cardiomyopathy	Uncertain significance (Apr 27, 2023)
7-151876510-A-G		Lethal congenital glycogen storage disease of heart	Likely benign (Sep 18, 2021)
7-151876510-A-T		not specified • Lethal congenital glycogen storage disease of heart • Cardiovascular phenotype • Wolff-Parkinson-White pattern • Hypertrophic cardiomyopathy 6 • Cardiomyopathy • Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity (Apr 09, 2025)
7-151876511-A-C		Hypertrophic cardiomyopathy	Uncertain significance (Oct 27, 2023)
7-151876511-A-G		Cardiovascular phenotype	Uncertain significance (Jun 22, 2021)
7-151876512-T-G		Hypertrophic cardiomyopathy	Uncertain significance (Dec 01, 2023)
7-151876513-G-A		Lethal congenital glycogen storage disease of heart • Cardiomyopathy • Hypertrophic cardiomyopathy	Likely benign (Mar 04, 2024)
7-151876513-G-C		Cardiovascular phenotype	Uncertain significance (Oct 13, 2021)
7-151876514-T-C		Lethal congenital glycogen storage disease of heart	Uncertain significance (Dec 04, 2019)
7-151876515-G-A		not specified • Lethal congenital glycogen storage disease of heart • Cardiomyopathy • Hypertrophic cardiomyopathy • Cardiovascular phenotype	Uncertain significance (Apr 14, 2025)
7-151876516-C-A		Cardiovascular phenotype • Lethal congenital glycogen storage disease of heart	Likely benign (May 23, 2024)
7-151876518-C-A		Cardiomyopathy	Uncertain significance (Dec 04, 2023)
7-151876519-G-C		not specified • Lethal congenital glycogen storage disease of heart • Hypertrophic cardiomyopathy • Cardiomyopathy	Likely benign (Aug 07, 2024)
7-151876521-G-A		Cardiovascular phenotype	Uncertain significance (Oct 09, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP