NM_001005242.3(PKP2):c.336+17T>G AND Cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 18, 2011
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:
RCV000030363.2

Allele description [Variation Report for NM_001005242.3(PKP2):c.336+17T>G]

NM_001005242.3(PKP2):c.336+17T>G

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.336+17T>G
HGVS:
  • NC_000012.12:g.32878903A>C
  • NG_009000.1:g.22944T>G
  • NM_001005242.3:c.336+17T>GMANE SELECT
  • NM_004572.4:c.336+17T>G
  • LRG_398t1:c.336+17T>G
  • LRG_398:g.22944T>G
  • NC_000012.11:g.33031837A>C
  • NM_004572.3:c.336+17T>G
Links:
dbSNP: rs185681814
NCBI 1000 Genomes Browser:
rs185681814
Molecular consequence:
  • NM_001005242.3:c.336+17T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004572.4:c.336+17T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000053030Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
uncertain
(Aug 18, 2011)
germlinecuration

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000053030.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providedBloodassert pathogenicitynot providednot providednot providednot provided

Last Updated: Jan 19, 2025