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NM_016203.4(PRKAG2):c.1367G>A (p.Arg456Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 30, 2013
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:
RCV000766637.1

Allele description [Variation Report for NM_016203.4(PRKAG2):c.1367G>A (p.Arg456Gln)]

NM_016203.4(PRKAG2):c.1367G>A (p.Arg456Gln)

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.1367G>A (p.Arg456Gln)
Other names:
p.R456Q:CGA>CAA
HGVS:
  • NC_000007.14:g.151565752C>T
  • NG_007486.2:g.316480G>A
  • NM_001040633.2:c.1235G>A
  • NM_001304527.2:c.992G>A
  • NM_001304531.2:c.644G>A
  • NM_001363698.2:c.995G>A
  • NM_016203.4:c.1367G>AMANE SELECT
  • NM_024429.2:c.644G>A
  • NP_001035723.1:p.Arg412Gln
  • NP_001291456.1:p.Arg331Gln
  • NP_001291460.1:p.Arg215Gln
  • NP_001291460.1:p.Arg215Gln
  • NP_001350627.1:p.Arg332Gln
  • NP_057287.2:p.Arg456Gln
  • NP_077747.1:p.Arg215Gln
  • LRG_430t1:c.1367G>A
  • LRG_430:g.316480G>A
  • LRG_430p1:p.Arg456Gln
  • NC_000007.13:g.151262838C>T
  • NG_007486.1:g.316479G>A
  • NM_001304531.1:c.644G>A
  • NM_016203.3:c.1367G>A
Protein change:
R215Q
Links:
dbSNP: rs730880980
NCBI 1000 Genomes Browser:
rs730880980
Molecular consequence:
  • NM_001040633.2:c.1235G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304527.2:c.992G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304531.2:c.644G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363698.2:c.995G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016203.4:c.1367G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024429.2:c.644G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000208955GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 30, 2013) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000208955.10

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Arg456Gln (CGA>CAA): c.1367 G>A in exon 12 of the PRKAG2 gene (NM_016203.3) The Arg456Gln variant in the PRKAG2 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge.The Arg456Gln variant is a semi-conservative amino acid substitution as these residues share similar properties, but differ in size, charge, or other properties which may impact secondary structure. The Ag456 residue is conserved across species. In addition, in silico analysis predicts Arg456Gln is possibly damaging to the protein structure/function. The Arg456Gln variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Nevertheless, no mutations affecting nearby residues have been reported in association with cardiomyopathy, indicating this region of the protein may be tolerant of change. With the clinical and molecular information available at this time, we cannot definitively determine if Arg456Gln is a disease-causing mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 14, 2024