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NM_001005242.3(PKP2):c.1628del (p.Val543fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 28, 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:
RCV000183792.2

Allele description [Variation Report for NM_001005242.3(PKP2):c.1628del (p.Val543fs)]

NM_001005242.3(PKP2):c.1628del (p.Val543fs)

Gene:
PKP2:plakophilin 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_001005242.3(PKP2):c.1628del (p.Val543fs)
HGVS:
  • NC_000012.12:g.32824091del
  • NG_009000.1:g.77756del
  • NM_001005242.3:c.1628delMANE SELECT
  • NM_004572.4:c.1760del
  • NP_001005242.2:p.Val543fs
  • NP_004563.2:p.Val587fs
  • LRG_398:g.77756del
  • NC_000012.11:g.32977025del
  • NC_000012.11:g.32977025delA
  • NM_004572.3:c.1760delT
  • c.1760delT
  • p.V587AfsX69
  • p.Val587fs
Protein change:
V543fs
Links:
dbSNP: rs397517009
NCBI 1000 Genomes Browser:
rs397517009
Molecular consequence:
  • NM_001005242.3:c.1628del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004572.4:c.1760del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000236273GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jun 28, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV000236273.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.1760delT pathogenic variant in the PKP2 gene has not been reported previously as a disease-causing mutation or as a benign polymorphism to our knowledge. However, a similar pathogenic variant, c.1759delG has been published in one individual with probable ARVC (Tan B et al., 2010). Both c.1760delT and c.1759delG are predicted to alter the protein's amino acid sequence beginning at residue 587, leading to a premature stop codon 69 amino acids downstream. These pathogenic variants are expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Additionally, c.1760delT was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant is found in PKP2 panel(s).

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

Last Updated: Dec 24, 2022