NM_001005242.3(PKP2):c.1881del (p.Lys628fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 13, 2023
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:: RCV000183795.11

Allele description [Variation Report for NM_001005242.3(PKP2):c.1881del (p.Lys628fs)]

NM_001005242.3(PKP2):c.1881del (p.Lys628fs)

Gene:

PKP2:plakophilin 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12p11.21

Genomic location:

Preferred name:

NM_001005242.3(PKP2):c.1881del (p.Lys628fs)

HGVS:

NC_000012.12:g.32821491del
NG_009000.1:g.80359del
NM_001005242.3:c.1881delMANE SELECT
NM_004572.4:c.2013del
NP_001005242.2:p.Lys628fs
NP_004563.2:p.Lys672fs
NP_004563.2:p.Lys672fs
LRG_398t1:c.2013del
LRG_398:g.80359del
LRG_398p1:p.Lys672fs
NC_000012.11:g.32974422del
NC_000012.11:g.32974425del
NC_000012.12:g.32821488delG
NM_004572.3:c.2013del
NM_004572.3:c.2013delC
p.K672RfsX12

Protein change:

K628fs

Links:

dbSNP: rs764817683

NCBI 1000 Genomes Browser:

rs764817683

Molecular consequence:

NM_001005242.3:c.1881del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004572.4:c.2013del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000236276	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Jul 13, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000236276

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Jul 13, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000236276.11

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Published functional studies using patient derived cells demonstrated abnormal nuclear translocation of junction plakoglobin, suggesting mutant PKP2 transcripts are unstable and degraded to undetectable levels (Kim et al., 2013); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26389801, 25344329, 24585727, 23671136, 25815118, 27110425, 24657289, 24576884, 25971409, 24920660, 16549640, 24070718, 24967631, 21723241, 23889974, 19358943, 26590176, 20031617, 23810894, 17010805, 23871885, 20857253, 29221435, 30302938, 30205876, 31533459, 31386562, 31402444, 28097316, 33087929, 35653365, 35536239, 32485643, 23354045)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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