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NM_016203.4(PRKAG2):c.1024G>A (p.Glu342Lys) AND Cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 17, 2021
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:
RCV001799075.2

Allele description [Variation Report for NM_016203.4(PRKAG2):c.1024G>A (p.Glu342Lys)]

NM_016203.4(PRKAG2):c.1024G>A (p.Glu342Lys)

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.1024G>A (p.Glu342Lys)
HGVS:
  • NC_000007.14:g.151572691C>T
  • NG_007486.2:g.309541G>A
  • NM_001040633.2:c.892G>A
  • NM_001304527.2:c.649G>A
  • NM_001304531.2:c.301G>A
  • NM_001363698.2:c.652G>A
  • NM_016203.4:c.1024G>AMANE SELECT
  • NM_024429.2:c.301G>A
  • NP_001035723.1:p.Glu298Lys
  • NP_001291456.1:p.Glu217Lys
  • NP_001291460.1:p.Glu101Lys
  • NP_001350627.1:p.Glu218Lys
  • NP_057287.2:p.Glu342Lys
  • NP_077747.1:p.Glu101Lys
  • LRG_430t1:c.1024G>A
  • LRG_430:g.309541G>A
  • LRG_430p1:p.Glu342Lys
  • NC_000007.13:g.151269777C>T
  • NG_007486.1:g.309540G>A
  • NM_016203.3:c.1024G>A
Protein change:
E101K
Links:
dbSNP: rs2151024095
NCBI 1000 Genomes Browser:
rs2151024095
Molecular consequence:
  • NM_001040633.2:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304527.2:c.649G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304531.2:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363698.2:c.652G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016203.4:c.1024G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024429.2:c.301G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002043484CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(May 17, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV002043484.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024