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NM_001005242.3(PKP2):c.2253del (p.Cys752fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 25, 2013
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:
RCV000183777.1

Allele description [Variation Report for NM_001005242.3(PKP2):c.2253del (p.Cys752fs)]

NM_001005242.3(PKP2):c.2253del (p.Cys752fs)

Gene:
PKP2:plakophilin 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_001005242.3(PKP2):c.2253del (p.Cys752fs)
HGVS:
  • NC_000012.12:g.32796214del
  • NG_009000.1:g.105634del
  • NM_001005242.3:c.2253delMANE SELECT
  • NM_004572.4:c.2385del
  • NP_001005242.2:p.Cys752fs
  • NP_004563.2:p.Cys796fs
  • LRG_398:g.105634del
  • NC_000012.11:g.32949148del
  • NM_004572.3:c.2385delC
  • p.C796VfsX4
Protein change:
C752fs
Links:
dbSNP: rs794729118
NCBI 1000 Genomes Browser:
rs794729118
Molecular consequence:
  • NM_001005242.3:c.2253del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004572.4:c.2385del - 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
SCV000236258GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Oct 25, 2013) 		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, SCV000236258.2

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

Description

This mutation is denoted c.2385delC at the cDNA level or at the protein level as p.Cys796ValfsX4. The normal sequence with the base that is deleted in braces is: GTCG{C}TGTT. The c.2385delC mutation in PKP2 causes a shift in reading frame starting at codon Cysteine796, changing it to a Valine, and creates a premature Stop codon at position 4 of the new reading frame. Although this mutation has not been reported previously to our knowledge, it is expected to result in an abnormal, truncated protein or in absence of protein from this allele due to mRNA decay. Other frameshift mutations in the PKP2 gene have been reported in association with ARVC. The variant is found in PKP2 panel(s).

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

Last Updated: Nov 5, 2022