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NM_001005242.3(PKP2):c.533dup (p.His179fs) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 12, 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:
RCV002345646.2

Allele description [Variation Report for NM_001005242.3(PKP2):c.533dup (p.His179fs)]

NM_001005242.3(PKP2):c.533dup (p.His179fs)

Gene:
PKP2:plakophilin 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_001005242.3(PKP2):c.533dup (p.His179fs)
Other names:
p.His179AlafsX37
HGVS:
  • NC_000012.12:g.32878347dup
  • NG_009000.1:g.23500dup
  • NM_001005242.3:c.533dupMANE SELECT
  • NM_004572.4:c.533dup
  • NP_001005242.2:p.His179fs
  • NP_004563.2:p.His179fs
  • NP_004563.2:p.His179fs
  • LRG_398t1:c.533dup
  • LRG_398:g.23500dup
  • LRG_398p1:p.His179fs
  • NC_000012.11:g.33031280_33031281insA
  • NC_000012.11:g.33031281dup
  • NM_004572.3:c.533dup
  • NM_004572.3:c.533dup
  • NM_004572.3:c.533dupT
  • p.H179AfsX37
Protein change:
H179fs
Links:
dbSNP: rs769220833
NCBI 1000 Genomes Browser:
rs769220833
Molecular consequence:
  • NM_001005242.3:c.533dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004572.4:c.533dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002646257Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Pathogenic
(Nov 12, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002646257.2

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

Description

The c.533dupT pathogenic mutation, located in coding exon 3 of the PKP2 gene, results from a duplication of T at nucleotide position 533, causing a translational frameshift with a predicted alternate stop codon (p.H179Afs*37). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Sep 29, 2024