NM_004572.3(PKP2):c.269_272delTACA (p.Leu90Profs) AND Arrhythmogenic right ventricular cardiomyopathy

Clinical significance:Likely pathogenic (Last evaluated: Nov 5, 2009)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000038216.2

Allele description [Variation Report for NM_004572.3(PKP2):c.269_272delTACA (p.Leu90Profs)]

NM_004572.3(PKP2):c.269_272delTACA (p.Leu90Profs)

Gene:
PKP2:plakophilin 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_004572.3(PKP2):c.269_272delTACA (p.Leu90Profs)
HGVS:
  • NC_000012.12:g.32878984_32878987delTGTA
  • NG_009000.1:g.22860_22863delTACA
  • NM_004572.3:c.269_272delTACA
  • NP_004563.2:p.Leu90Profs
  • LRG_398t1:c.269_272delTACA
  • LRG_398:g.22860_22863delTACA
  • LRG_398p1:p.Leu90Profs
  • NC_000012.11:g.33031918_33031921delTGTA
  • c.269_272delTACA
  • p.Leu90fs
Links:
dbSNP: 397517025
NCBI 1000 Genomes Browser:
rs397517025
Molecular consequence:
  • NM_004572.3:c.269_272delTACA - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000061884Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicineno assertion criteria providedLikely pathogenic
(Nov 5, 2009)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided31not providednot providednot providedclinical testing

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000061884.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided3not provided1not provided

Last Updated: Sep 20, 2016