NM_001005242.3(PKP2):c.1769del (p.Asn590fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 23, 2022
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:: RCV000484313.3

Allele description [Variation Report for NM_001005242.3(PKP2):c.1769del (p.Asn590fs)]

NM_001005242.3(PKP2):c.1769del (p.Asn590fs)

Gene:

PKP2:plakophilin 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12p11.21

Genomic location:

Preferred name:

NM_001005242.3(PKP2):c.1769del (p.Asn590fs)

HGVS:

NC_000012.12:g.32822540del
NG_009000.1:g.79310del
NM_001005242.3:c.1769delMANE SELECT
NM_004572.4:c.1901del
NP_001005242.2:p.Asn590fs
NP_004563.2:p.Asn634fs
NP_004563.2:p.Asn634fs
LRG_398t1:c.1901del
LRG_398:g.79310del
LRG_398p1:p.Asn634fs
NC_000012.11:g.32975471del
NC_000012.11:g.32975474del
NM_004572.3:c.1901del
NM_004572.3:c.1901delA

Protein change:

N590fs

Links:

dbSNP: rs1064793231

NCBI 1000 Genomes Browser:

rs1064793231

Molecular consequence:

NM_001005242.3:c.1769del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004572.4:c.1901del - 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
SCV000565377	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Aug 23, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000565377

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Aug 23, 2022)

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, SCV000565377.6

#	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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 27114410, 27532257, 26582918, 27535533, 33087929)

#	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: Feb 20, 2024

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