NM_001943.4(DSG2):c.2434G>T (p.Gly812Cys) AND Arrhythmogenic right ventricular cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Jun 1, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000037286.3

Allele description [Variation Report for NM_001943.4(DSG2):c.2434G>T (p.Gly812Cys)]

NM_001943.4(DSG2):c.2434G>T (p.Gly812Cys)

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_001943.4(DSG2):c.2434G>T (p.Gly812Cys)
HGVS:
  • NC_000018.10:g.31545820G>T
  • NG_007072.3:g.52579G>T
  • NM_001943.4:c.2434G>T
  • NP_001934.2:p.Gly812Cys
  • LRG_397t1:c.2434G>T
  • LRG_397:g.52579G>T
  • LRG_397p1:p.Gly812Cys
  • NC_000018.9:g.29125783G>T
  • NG_007072.2:g.52579G>T
  • NM_001943.3:c.2434G>T
  • Q14126:p.Gly812Cys
  • c.2434G>T
Note:
NCBI staff reviewed the sequence information reported in PubMed 16773573 to determine the location of this allele on current reference sequence.
Protein change:
G812C
Links:
UniProtKB: Q14126#VAR_029368; OMIM: 125671.0005; dbSNP: 121913010
NCBI 1000 Genomes Browser:
rs121913010
Allele Frequency:
NaN, GO-ESP
Molecular consequence:
  • NM_001943.4:c.2434G>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Arrhythmogenic right ventricular cardiomyopathy (ARVD)
Synonyms:
Arrhythmogenic right ventricular dysplasia
Identifiers:
MedGen: C0349788; OMIM: PS107970

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000060943Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicineno assertion criteria providedLikely pathogenic
(Aug 17, 2009)
germlineclinical testing

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

SCV000190171CSER_CC_NCGL; University of Washington Medical Center - ESP 6500 variant annotationno assertion criteria providedLikely pathogenic
(Jun 1, 2014)
germlineresearch

Description

Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript

SCV000190171

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Awad MM, Dalal D, Cho E, Amat-Alarcon N, James C, Tichnell C, Tucker A, Russell SD, Bluemke DA, Dietz HC, Calkins H, Judge DP.

Am J Hum Genet. 2006 Jul;79(1):136-42. Epub 2006 Apr 28.

PubMed [citation]
PMID:
16773573
PMCID:
PMC1474134

Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Awad MM, Calkins H, Judge DP.

Nat Clin Pract Cardiovasc Med. 2008 May;5(5):258-67. doi: 10.1038/ncpcardio1182. Epub 2008 Apr 1. Review.

PubMed [citation]
PMID:
18382419
PMCID:
PMC2822988

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000060943.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

From CSER_CC_NCGL; University of Washington Medical Center - ESP 6500 variant annotation, SCV000190171.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 27, 2017