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NM_001943.5(DSG2):c.430G>A (p.Glu144Lys) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 15, 2023
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:
RCV000620333.4

Allele description [Variation Report for NM_001943.5(DSG2):c.430G>A (p.Glu144Lys)]

NM_001943.5(DSG2):c.430G>A (p.Glu144Lys)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys)
Other names:
p.E144K:GAG>AAG
HGVS:
  • NC_000018.10:g.31521150G>A
  • NG_007072.3:g.27909G>A
  • NM_001943.5:c.430G>AMANE SELECT
  • NP_001934.2:p.Glu144Lys
  • LRG_397t1:c.430G>A
  • LRG_397:g.27909G>A
  • NC_000018.9:g.29101113G>A
  • NM_001943.3:c.430G>A
  • NM_001943.4:c.430G>A
Protein change:
E144K
Links:
dbSNP: rs199842209
NCBI 1000 Genomes Browser:
rs199842209
Molecular consequence:
  • NM_001943.5:c.430G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000736921Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 15, 2023) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

PKP2 and DSG2 genetic variations in Latvian arrhythmogenic right ventricular dysplasia/cardiomyopathy registry patients.

Bidina L, Kupics K, Sokolova E, Pavlovics M, Dobele Z, Caunite L, Kalejs O, Gailite L.

Anatol J Cardiol. 2018 Nov;20(5):296-302. doi: 10.14744/AnatolJCardiol.2018.35984.

PubMed [citation]
PMID:
30391969
PMCID:
PMC6280287

Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders.

Marschall C, Moscu-Gregor A, Klein HG.

Cardiovasc Diagn Ther. 2019 Oct;9(Suppl 2):S292-S298. doi: 10.21037/cdt.2019.06.06.

PubMed [citation]
PMID:
31737537
PMCID:
PMC6837920

Details of each submission

From Ambry Genetics, SCV000736921.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.E144K variant (also known as c.430G>A), located in coding exon 5 of the DSG2 gene, results from a G to A substitution at nucleotide position 430. The glutamic acid at codon 144 is replaced by lysine, an amino acid with similar properties. This alteration has been reported in arrhythmogenic right ventricular cardiomyopathy (ARVC) cohorts; however, clinical details were limited (Bidina L et al. Anatol J Cardiol, 2018 Nov;20:296-302; Marschall C et al. Cardiovasc Diagn Ther, 2019 Oct;9:S292-S298). This amino acid position is not well 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
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024