NM_001005242.3(PKP2):c.240del (p.Ser81fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 28, 2014
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:: RCV000183779.1

Allele description [Variation Report for NM_001005242.3(PKP2):c.240del (p.Ser81fs)]

NM_001005242.3(PKP2):c.240del (p.Ser81fs)

Gene:

PKP2:plakophilin 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12p11.21

Genomic location:

Preferred name:

NM_001005242.3(PKP2):c.240del (p.Ser81fs)

HGVS:

NC_000012.12:g.32879017del
NG_009000.1:g.22831del
NM_001005242.3:c.240delMANE SELECT
NM_004572.4:c.240del
NP_001005242.2:p.Ser81fs
NP_004563.2:p.Ser81fs
LRG_398:g.22831del
NC_000012.11:g.33031951del
NM_004572.3:c.240delC
p.S81AfsX31

Protein change:

S81fs

Links:

dbSNP: rs794729119

NCBI 1000 Genomes Browser:

rs794729119

Molecular consequence:

NM_001005242.3:c.240del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004572.4:c.240del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000236260	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Jan 28, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000236260

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Jan 28, 2014)

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, SCV000236260.10

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

Description

Although the c.355delC mutation in the PKP2 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Serine 81, changing it to an Alanine, and creating a premature stop codon at position 31 of the new reading frame, denoted p.Ser81AlafsX31. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense mediated mRNA decay. Other frameshift mutations in the PKP2 gene have been reported in association with ARVC. In summary, c.355delC in the PKP2 gene is interpreted as a disease-causing mutation.

#	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: Nov 5, 2022

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