NM_004949.3(DSC2):c.1077+2T>G AND Arrhythmogenic right ventricular cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Aug 19, 2008)

Review status:(1/4)1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000039401.1

Allele description [Variation Report for NM_004949.3(DSC2):c.1077+2T>G]

Gene:
DSC2:desmocollin 2 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_004949.3(DSC2):c.1077+2T>G
HGVS:
  • NC_000018.10:g.31082924A>C
  • NG_008208.2:g.24502T>G
  • NM_004949.3:c.1077+2T>G
  • NM_024422.3:c.1077+2T>G
  • NC_000018.9:g.28662890A>C
  • NG_008208.1:g.24499T>G
  • c.1077+2T>G
Links:
dbSNP: 397517389
NCBI 1000 Genomes Browser:
rs397517389
Molecular consequence:
  • NM_004949.3:c.1077+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]
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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000063085Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicineclassified by single submitterprobably pathogenic
(Aug 19, 2008)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot provided1not providednot providednot providedclinical testing

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000063085.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providedassert pathogenicitynot providednot provided1not provided

Last Updated: Aug 8, 2014

Write to the Help Desk