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NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) AND Arrhythmogenic right ventricular cardiomyopathy

Germline classification:
Benign (2 submissions)
Last evaluated:
Feb 5, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000172746.13

Allele description [Variation Report for NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys)]

NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys)

Genes:
DSG2-AS1:DSG2 antisense RNA 1 [Gene - HGNC]
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys)
Other names:
p.E713K:GAG>AAG
HGVS:
  • NC_000018.10:g.31542655G>A
  • NG_007072.3:g.49414G>A
  • NM_001943.5:c.2137G>AMANE SELECT
  • NP_001934.2:p.Glu713Lys
  • LRG_397t1:c.2137G>A
  • LRG_397:g.49414G>A
  • NC_000018.9:g.29122618G>A
  • NM_001943.3:c.2137G>A
  • NM_001943.4:c.2137G>A
  • Q14126:p.Glu713Lys
  • c.2137G>A
Protein change:
E713K
Links:
UniProtKB: Q14126#VAR_062389; dbSNP: rs79241126
NCBI 1000 Genomes Browser:
rs79241126
Molecular consequence:
  • NM_001943.5:c.2137G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
13415

Condition(s)

Name:
Arrhythmogenic right ventricular cardiomyopathy (ARVD)
Synonyms:
Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
Identifiers:
MONDO: MONDO:0016587; MeSH: D019571; MedGen: C0349788

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000051531Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq
criteria provided, single submitter

(Ng et al. (Circ Cardiovasc Genet. 2013))		Benign
(Jun 24, 2013) 		unknownresearch

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

SCV004821758All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Feb 5, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown13415not providednot provided108544not providedclinical testing
not providedunknownunknown113not providednot providednot providednot providedresearch

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

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 Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000051531.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided113not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided113not providednot providednot provided

From All of Us Research Program, National Institutes of Health, SCV004821758.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided13415not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown108544not providednot provided13415not providednot providednot provided

Last Updated: Oct 13, 2024