chr7:151576412:C>T Detail (hg38) (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	chr7:151,273,498-151,273,498 View the variant detail on this assembly version.
hg38	chr7:151,576,412-151,576,412

HGVS

PRKAG2

Type	Transcript	Protein
RefSeq	NM_016203.3:c.905G>A	NP_057287.2:p.Arg302Gln
	NM_001040633.1:c.773G>A	NP_001035723.1:p.Arg258Gln
	NM_001304531.1:c.182G>A	NP_001291460.1:p.Arg61Gln
	NM_024429.1:c.182G>A	NP_077747.1:p.Arg61Gln
	NM_001304527.1:c.530G>A	NP_001291456.1:p.Arg177Gln
Ensemble	ENST00000287878.9:c.905G>A	ENST00000287878.9:p.Arg302Gln
	ENST00000392801.6:c.773G>A	ENST00000392801.6:p.Arg258Gln
	ENST00000418337.6:c.182G>A	ENST00000418337.6:p.Arg61Gln
	ENST00000492843.6:c.530G>A	ENST00000492843.6:p.Arg177Gln
	ENST00000650858.1:c.122G>A	ENST00000650858.1:p.Arg41Gln
	ENST00000651378.1:c.182G>A	ENST00000651378.1:p.Arg61Gln
	ENST00000651764.1:c.773G>A	ENST00000651764.1:p.Arg258Gln
	ENST00000652047.1:c.770G>A	ENST00000652047.1:p.Arg257Gln
	ENST00000652159.1:c.773G>A	ENST00000652159.1:p.Arg258Gln
	ENST00000652321.2:c.902G>A	ENST00000652321.2:p.Arg301Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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	tgv353190384	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-01-03	criteria provided, multiple submitters, no conflicts	Wolff-Parkinson-White pattern	germline unknown	Detail
Pathogenic	2022-02-02	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy 6	germline unknown	Detail
Pathogenic	2022-03-24	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2016-05-12	criteria provided, single submitter	Primary familial hypertrophic cardiomyopathy	germline	Detail
Pathogenic	2024-01-07	criteria provided, single submitter	lethal congenital glycogen storage disease of heart	germline	Detail
Pathogenic	2021-10-14	criteria provided, single submitter		germline	Detail
Pathogenic	2020-09-28	criteria provided, multiple submitters, no conflicts	hypertrophic cardiomyopathy	germline	Detail
Pathogenic	2023-06-15	criteria provided, single submitter	cardiomyopathy	germline	Detail
Pathogenic	2022-03-14	criteria provided, single submitter	Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.366	Wolff-Parkinson-White syndrome	Humans with an R302Q mutation in AMPKgamma(2) (the PRKAG2 gene) develop a glycog...	BeFree	20031621	Detail
0.001	Wolff-Parkinson-White syndrome	We identified a gene (PRKAG2) that encodes the gamma-2 regulatory subunit of AMP...	BeFree	15611370	Detail
0.366	Wolff-Parkinson-White syndrome	We identified a gene (PRKAG2) that encodes the gamma-2 regulatory subunit of AMP...	BeFree	15611370	Detail
0.001	Glycogen Storage Disease Type IIb	Humans with an R302Q mutation in AMPKgamma(2) (the PRKAG2 gene) develop a glycog...	BeFree	20031621	Detail
0.366	Wolff-Parkinson-White syndrome	NA	CLINVAR		Detail
0.360	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) AND Wolff-Parkinson-White pattern	ClinVar	Detail
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) AND Hypertrophic cardiomyopathy 6	ClinVar	Detail
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) AND not provided	ClinVar	Detail
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) AND Primary familial hypertrophic cardiomyopathy	ClinVar	Detail
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) AND Lethal congenital glycogen storage disease of heart	ClinVar	Detail
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) AND Cardiovascular phenotype	ClinVar	Detail
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) AND Hypertrophic cardiomyopathy	ClinVar	Detail
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) AND Cardiomyopathy	ClinVar	Detail
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) AND Familial Hypertrophic Cardiomyopathy with Wolff-Parki...	ClinVar	Detail
Humans with an R302Q mutation in AMPKgamma(2) (the PRKAG2 gene) develop a glycogen storage cardiomyo...	DisGeNET	Detail
We identified a gene (PRKAG2) that encodes the gamma-2 regulatory subunit of AMP-activated protein k...	DisGeNET	Detail
We identified a gene (PRKAG2) that encodes the gamma-2 regulatory subunit of AMP-activated protein k...	DisGeNET	Detail
Humans with an R302Q mutation in AMPKgamma(2) (the PRKAG2 gene) develop a glycogen storage cardiomyo...	DisGeNET	Detail
NA	DisGeNET	Detail
NA	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: rs121908987 dbSNP
Genome: hg38
Position: chr7:151,576,412-151,576,412
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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