NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 17, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000620896.4

Allele description [Variation Report for NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn)]

NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn)

Gene:

PRKAG2:protein kinase AMP-activated non-catalytic subunit gamma 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

Preferred name:

NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn)

Other names:

p.Asp372Asn

HGVS:

NC_000007.14:g.151568835C>T
NG_007486.2:g.313397G>A
NM_001040633.2:c.982G>A
NM_001304527.2:c.739G>A
NM_001304531.2:c.391G>A
NM_001363698.2:c.742G>A
NM_016203.4:c.1114G>AMANE SELECT
NM_024429.2:c.391G>A
NP_001035723.1:p.Asp328Asn
NP_001291456.1:p.Asp247Asn
NP_001291460.1:p.Asp131Asn
NP_001350627.1:p.Asp248Asn
NP_057287.2:p.Asp372Asn
NP_077747.1:p.Asp131Asn
LRG_430t1:c.1114G>A
LRG_430:g.313397G>A
LRG_430p1:p.Asp372Asn
NC_000007.13:g.151265921C>T
NG_007486.1:g.313396G>A
NM_016203.3:c.1114G>A

Protein change:

D131N

Links:

dbSNP: rs760826751

NCBI 1000 Genomes Browser:

rs760826751

Molecular consequence:

NM_001040633.2:c.982G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001304527.2:c.739G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001304531.2:c.391G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001363698.2:c.742G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_016203.4:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_024429.2:c.391G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000737033	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (May 17, 2024)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 30847666, 35600473 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000737033

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(May 17, 2024)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

van Lint FHM, Mook ORF, Alders M, Bikker H, Lekanne Dit Deprez RH, Christiaans I.

Neth Heart J. 2019 Jun;27(6):304-309. doi: 10.1007/s12471-019-1250-5.

PubMed [citation]

PMID:: 30847666
PMCID:: PMC6533346

Case Report: Family Curse: An SCN5A Mutation, c.611C>A, p.A204E Associated With a Family History of Dilated Cardiomyopathy and Arrhythmia.

Huang W, Xu R, Gao N, Wu X, Wen C.

Front Cardiovasc Med. 2022;9:822150. doi: 10.3389/fcvm.2022.822150. Erratum in: Front Cardiovasc Med. 2022 Jun 15;9:944834. doi: 10.3389/fcvm.2022.944834.

PubMed [citation]

PMID:: 35600473
PMCID:: PMC9120596

Details of each submission

From Ambry Genetics, SCV000737033.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The p.D372N variant (also known as c.1114G>A), located in coding exon 11 of the PRKAG2 gene, results from a G to A substitution at nucleotide position 1114. The aspartic acid at codon 372 is replaced by asparagine, an amino acid with highly similar properties. This variant was detected in an arrhythmia genetic testing cohort; however, clinical details were limited (van Lint FHM et al. Neth Heart J, 2019 Jun;27:304-309). This variant was also reported in a family with dilated cardiomyopathy (DCM), who also had alterations in other cardiac-related genes (Huang W et al. Front Cardiovasc Med, 2022 May;9:822150). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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