U.S. flag

An official website of the United States government

NM_001005242.3(PKP2):c.1627del (p.Val543fs) AND Arrhythmogenic right ventricular cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 14, 2010
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:
RCV000038185.6

Allele description [Variation Report for NM_001005242.3(PKP2):c.1627del (p.Val543fs)]

NM_001005242.3(PKP2):c.1627del (p.Val543fs)

Gene:
PKP2:plakophilin 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_001005242.3(PKP2):c.1627del (p.Val543fs)
HGVS:
  • NC_000012.12:g.32824093del
  • NG_009000.1:g.77755del
  • NM_001005242.3:c.1627delMANE SELECT
  • NM_004572.4:c.1759del
  • NP_001005242.2:p.Val543fs
  • NP_004563.2:p.Val587fs
  • NP_004563.2:p.Val587fs
  • LRG_398t1:c.1759del
  • LRG_398:g.77755del
  • LRG_398p1:p.Val587fs
  • NC_000012.11:g.32977026delC
  • NC_000012.11:g.32977027del
  • NM_004572.3:c.1759del
  • NM_004572.3:c.1759delG
  • c.1759delG
  • p.Val587fs
Protein change:
V543fs
Links:
dbSNP: rs397517008
NCBI 1000 Genomes Browser:
rs397517008
Molecular consequence:
  • NM_001005242.3:c.1627del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004572.4:c.1759del - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Arrhythmogenic right ventricular cardiomyopathy (ARVD)
Synonyms:
Cardiomyopathy, ARVC; Arrhythmogenic right ventricular dysplasia
Identifiers:
MONDO: MONDO:0016587; MedGen: C0349788

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000061852Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely pathogenic
(Dec 14, 2010) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided41not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000061852.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (1)

Description

The Val587fs variant has not been reported in the literature and has not been pr eviously detected by our laboratory. This variant is predicted to cause a frame shift, which alters the protein's amino acid sequence beginning at codon 587 and leads to a premature stop codon 69 amino acids downstream. This alteration is t hen predicted to lead to a truncated or absent protein (loss of function). Patho genic loss of function variants are common in the PKP2 gene, which makes it high ly likely that the Val587fs is pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided4not provided1not provided

Last Updated: May 1, 2024