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NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 4, 2022
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:
RCV000619075.2

Allele description

NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu)

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.593C>T (p.Pro198Leu)
HGVS:
  • NC_000007.14:g.151675511G>A
  • NG_007486.2:g.206721C>T
  • NM_001040633.2:c.461C>T
  • NM_001304527.2:c.221C>T
  • NM_001363698.2:c.221C>T
  • NM_016203.4:c.593C>TMANE SELECT
  • NP_001035723.1:p.Pro154Leu
  • NP_001291456.1:p.Pro74Leu
  • NP_001350627.1:p.Pro74Leu
  • NP_057287.2:p.Pro198Leu
  • LRG_430t1:c.593C>T
  • LRG_430:g.206721C>T
  • LRG_430p1:p.Pro198Leu
  • NC_000007.13:g.151372597G>A
  • NG_007486.1:g.206720C>T
  • NM_016203.3:c.593C>T
Protein change:
P154L
Links:
dbSNP: rs41317142
NCBI 1000 Genomes Browser:
rs41317142
Molecular consequence:
  • NM_001040633.2:c.461C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001304527.2:c.221C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363698.2:c.221C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_016203.4:c.593C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000736832Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(Apr 4, 2022) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample.

Jiao J, Zhang M, Yang P, Huang Y, Hu X, Cai J, Yang C, Situ M, Zhang H, Fu L, Guo K, Huang Y.

J Mol Neurosci. 2020 Feb;70(2):219-229. doi: 10.1007/s12031-019-01456-z. Epub 2019 Dec 14.

PubMed [citation]
PMID:
31838722
PMCID:
PMC7018782

Details of each submission

From Ambry Genetics, SCV000736832.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.P198L variant (also known as c.593C>T), located in coding exon 4 of the PRKAG2 gene, results from a C to T substitution at nucleotide position 593. The proline at codon 198 is replaced by leucine, an amino acid with similar properties. This alteration has been reported in an autism spectrum disorder cohort that had whole exome sequencing (Jiao J et al. J Mol Neurosci, 2020 Feb;70:219-229). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024