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NM_001005242.3(PKP2):c.2062C>T (p.Gln688Ter) AND Cardiomyopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 14, 2019
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:
RCV001177243.3

Allele description [Variation Report for NM_001005242.3(PKP2):c.2062C>T (p.Gln688Ter)]

NM_001005242.3(PKP2):c.2062C>T (p.Gln688Ter)

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.2062C>T (p.Gln688Ter)
HGVS:
  • NC_000012.12:g.32802508G>A
  • NG_009000.1:g.99339C>T
  • NM_001005242.3:c.2062C>TMANE SELECT
  • NM_004572.4:c.2194C>T
  • NP_001005242.2:p.Gln688Ter
  • NP_004563.2:p.Gln732Ter
  • NP_004563.2:p.Gln732Ter
  • LRG_398t1:c.2194C>T
  • LRG_398:g.99339C>T
  • LRG_398p1:p.Gln732Ter
  • NC_000012.11:g.32955442G>A
  • NM_004572.3:c.2194C>T
Protein change:
Q688*
Links:
dbSNP: rs1956192035
NCBI 1000 Genomes Browser:
rs1956192035
Molecular consequence:
  • NM_001005242.3:c.2062C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_004572.4:c.2194C>T - nonsense - [Sequence Ontology: SO:0001587]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001341418Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Oct 14, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001341418.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant changes 1 nucleotide in exon 11 of the PKP2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has been reported in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 26887364). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of PKP2 function is a known mechanism of disease. Based on the available evidence, this variant is classified as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 20, 2024