chr7:151257696:C>A Detail (hg19) (PRKAG2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr7:151,257,696-151,257,696
hg38	chr7:151,560,610-151,560,610 View the variant detail on this assembly version.

HGVS

PRKAG2

Type	Transcript	Protein
RefSeq	NM_016203.3:c.1592G>T	NP_057287.2:p.Arg531Leu
	NM_001040633.1:c.1460G>T	NP_001035723.1:p.Arg487Leu
	NM_001304531.1:c.869G>T	NP_001291460.1:p.Arg290Leu
	NM_024429.1:c.869G>T	NP_077747.1:p.Arg290Leu
	NM_001304527.1:c.1217G>T	NP_001291456.1:p.Arg406Leu
Ensemble	ENST00000287878.9:c.1592G>T	ENST00000287878.9:p.Arg531Leu
	ENST00000392801.6:c.1460G>T	ENST00000392801.6:p.Arg487Leu
	ENST00000418337.6:c.869G>T	ENST00000418337.6:p.Arg290Leu
	ENST00000492843.6:c.1217G>T	ENST00000492843.6:p.Arg406Leu
	ENST00000650858.1:c.809G>T	ENST00000650858.1:p.Arg270Leu
	ENST00000651378.1:c.869G>T	ENST00000651378.1:p.Arg290Leu
	ENST00000651764.1:c.1460G>T	ENST00000651764.1:p.Arg487Leu
	ENST00000652047.1:c.1457G>T	ENST00000652047.1:p.Arg486Leu
	ENST00000652159.1:c.1460G>T	ENST00000652159.1:p.Arg487Leu
	ENST00000652321.2:c.1589G>T	ENST00000652321.2:p.Arg530Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
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Links

PRKAG2

Type	Database	ID	Link
Gene	MIM	602743	OMIM
	HGNC	9386	HGNC
	Ensembl	ENSG00000106617	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2023-06-08	criteria provided, conflicting interpretations	hypertrophic cardiomyopathy	germline	Detail
Pathogenic	2022-12-04	criteria provided, single submitter	lethal congenital glycogen storage disease of heart	germline	Detail
Uncertain significance	2023-01-04	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2023-03-22	criteria provided, single submitter	cardiomyopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)	NA	CLINVAR		Detail
<0.001	Cardiac glycogenosis	Thus, recurrent heterozygous R531Q missense mutations in PRKAG2 give rise to a m...	BeFree	15877279	Detail
0.366	Wolff-Parkinson-White syndrome	Thus, recurrent heterozygous R531Q missense mutations in PRKAG2 give rise to a m...	BeFree	15877279	Detail
0.001	hypertrophic cardiomyopathy	The report of a pathogenic mutation (R531Q) in the gene (PRKAG2) encoding the ga...	BeFree	17667862	Detail
<0.001	Glycogen storage disease, type IX	Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutat...	BeFree	15877279	Detail
0.480	Glycogen Storage Disease of Heart, Lethal Congenital	NA	CLINVAR		Detail
<0.001	Deficiency of phosphorylase kinase	Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutat...	BeFree	15877279	Detail
<0.001	Glycogen storage disease, type IX	Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutat...	BeFree	15877279	Detail
<0.001	Deficiency of phosphorylase kinase	Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutat...	BeFree	15877279	Detail
0.012	hypertrophic cardiomyopathy	Thus, recurrent heterozygous R531Q missense mutations in PRKAG2 give rise to a m...	BeFree	15877279	Detail
0.012	hypertrophic cardiomyopathy	The report of a pathogenic mutation (R531Q) in the gene (PRKAG2) encoding the ga...	BeFree	17667862	Detail

Annotation

Annotations

Descrption	Source	Links
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu) AND Lethal congenital glycogen storage disease of heart	ClinVar	Detail
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu) AND not provided	ClinVar	Detail
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu) AND Cardiomyopathy	ClinVar	Detail
NA	DisGeNET	Detail
Thus, recurrent heterozygous R531Q missense mutations in PRKAG2 give rise to a massive nonlysosomal ...	DisGeNET	Detail
Thus, recurrent heterozygous R531Q missense mutations in PRKAG2 give rise to a massive nonlysosomal ...	DisGeNET	Detail
The report of a pathogenic mutation (R531Q) in the gene (PRKAG2) encoding the gamma2 subunit of AMP-...	DisGeNET	Detail
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-s...	DisGeNET	Detail
NA	DisGeNET	Detail
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-s...	DisGeNET	Detail
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-s...	DisGeNET	Detail
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-s...	DisGeNET	Detail
Thus, recurrent heterozygous R531Q missense mutations in PRKAG2 give rise to a massive nonlysosomal ...	DisGeNET	Detail
The report of a pathogenic mutation (R531Q) in the gene (PRKAG2) encoding the gamma2 subunit of AMP-...	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs121908991 dbSNP
Genome: hg19
Position: chr7:151,257,696-151,257,696
Variant Type: snv
Reference Allele: C
Alternative Allele: A

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