NM_001943.3(DSG2):c.3061_3062delAG (p.Ser1021Leufs) AND Arrhythmogenic right ventricular cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Oct 29, 2009)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000037297.1

Allele description [Variation Report for NM_001943.3(DSG2):c.3061_3062delAG (p.Ser1021Leufs)]

Genes:
DSG2:desmoglein 2 [Gene - OMIM]
DSG2-AS1:DSG2 antisense RNA 1 [Gene]
Variant type:
Deletion
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.3(DSG2):c.3061_3062delAG (p.Ser1021Leufs)
HGVS:
  • NC_000018.10:g.31546447_31546448delAG
  • NG_007072.3:g.53206_53207delAG
  • NM_001943.3:c.3061_3062delAG
  • NP_001934.2:p.Ser1021Leufs
  • NC_000018.9:g.29126410_29126411delAG
  • c.3061_3062delAG
Links:
dbSNP: 397516706
NCBI 1000 Genomes Browser:
rs397516706
Molecular consequence:
  • NM_001943.3:c.3061_3062delAG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_045216.1:n.1346-542_1346-541delCT - intron variant - [Sequence Ontology: SO:0001627]
Observations:
1

Condition(s)

Name:
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Synonyms:
Cardiomyopathy; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 10; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy12; See all synonyms [MedGen]
Identifiers:
MedGen: C0349788

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000060954Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicineclassified by single submitterprobably pathogenic
(Oct 29, 2009)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000060954.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providedassert pathogenicitynot providednot providednot providednot provided

Last Updated: Dec 10, 2014

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