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NM_001005242.3(PKP2):c.2357+1G>T AND Arrhythmogenic right ventricular cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 7, 2009
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000038212.5

Allele description [Variation Report for NM_001005242.3(PKP2):c.2357+1G>T]

NM_001005242.3(PKP2):c.2357+1G>T

Gene:
PKP2:plakophilin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_001005242.3(PKP2):c.2357+1G>T
HGVS:
  • NC_000012.12:g.32796108C>A
  • NG_009000.1:g.105739G>T
  • NM_001005242.3:c.2357+1G>TMANE SELECT
  • NM_001407155.1:c.2168-3377G>T
  • NM_001407156.1:c.2192+1G>T
  • NM_001407158.1:c.2030+1G>T
  • NM_001407159.1:c.2030+1G>T
  • NM_001407160.1:c.1841-3377G>T
  • NM_004572.4:c.2489+1G>T
  • LRG_398t1:c.2489+1G>T
  • LRG_398:g.105739G>T
  • NC_000012.11:g.32949042C>A
  • NM_004572.3:c.2489+1G>T
  • c.2489+1G>T
Links:
dbSNP: rs111517471
NCBI 1000 Genomes Browser:
rs111517471
Molecular consequence:
  • NM_001407155.1:c.2168-3377G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407160.1:c.1841-3377G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001005242.3:c.2357+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407156.1:c.2192+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407158.1:c.2030+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001407159.1:c.2030+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004572.4:c.2489+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000061880Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
no assertion criteria provided
Likely pathogenic
(Oct 7, 2009) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not providednot providednot providedclinical testing

Citations

PubMed

Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

den Haan AD, Tan BY, Zikusoka MN, Lladó LI, Jain R, Daly A, Tichnell C, James C, Amat-Alarcon N, Abraham T, Russell SD, Bluemke DA, Calkins H, Dalal D, Judge DP.

Circ Cardiovasc Genet. 2009 Oct;2(5):428-35. doi: 10.1161/CIRCGENETICS.109.858217. Epub 2009 Jun 3.

PubMed [citation]
PMID:
20031617
PMCID:
PMC2801867

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061880.5

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

Last Updated: Feb 20, 2024