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NM_001005242.3(PKP2):c.*579C>A AND Arrhythmogenic right ventricular cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000284247.5

Allele description [Variation Report for NM_001005242.3(PKP2):c.*579C>A]

NM_001005242.3(PKP2):c.*579C>A

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.*579C>A
HGVS:
  • NC_000012.12:g.32791845G>T
  • NG_009000.1:g.110002C>A
  • NM_001005242.3:c.*579C>AMANE SELECT
  • NM_004572.4:c.*579C>A
  • LRG_398t1:c.*579C>A
  • LRG_398:g.110002C>A
  • NC_000012.11:g.32944779G>T
  • NM_004572.3:c.*579C>A
Links:
dbSNP: rs886049314
NCBI 1000 Genomes Browser:
rs886049314
Molecular consequence:
  • NM_001005242.3:c.*579C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_004572.4:c.*579C>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Arrhythmogenic right ventricular cardiomyopathy (ARVD)
Synonyms:
Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
Identifiers:
MONDO: MONDO:0016587; MeSH: D019571; MedGen: C0349788

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000378431Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000378431.2

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

Last Updated: Aug 4, 2024