U.S. flag

An official website of the United States government

NM_001005242.3(PKP2):c.1689dup (p.Val564fs) AND Cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 14, 2019
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:
RCV001171163.2

Allele description [Variation Report for NM_001005242.3(PKP2):c.1689dup (p.Val564fs)]

NM_001005242.3(PKP2):c.1689dup (p.Val564fs)

Gene:
PKP2:plakophilin 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_001005242.3(PKP2):c.1689dup (p.Val564fs)
Other names:
p.Val608CysfsX6
HGVS:
  • NC_000012.12:g.32822617dup
  • NG_009000.1:g.79230dup
  • NM_001005242.3:c.1689dupMANE SELECT
  • NM_004572.4:c.1821dup
  • NP_001005242.2:p.Val564fs
  • NP_004563.2:p.Val608fs
  • NP_004563.2:p.Val608fs
  • LRG_398t1:c.1821dup
  • LRG_398:g.79230dup
  • LRG_398p1:p.Val608fs
  • NC_000012.11:g.32975551dup
  • NM_001005242.3:c.1689dupTMANE SELECT
  • NM_004572.3:c.1821dup
  • NM_004572.3:c.1821dupT
  • c.1821_1822insT
Protein change:
V564fs
Links:
dbSNP: rs397517010
NCBI 1000 Genomes Browser:
rs397517010
Molecular consequence:
  • NM_001005242.3:c.1689dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004572.4:c.1821dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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
SCV001333848CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 14, 2019) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario, SCV001333848.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024