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NM_001005242.3(PKP2):c.288T>G (p.Asp96Glu) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 7, 2024
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:
RCV004033410.1

Allele description [Variation Report for NM_001005242.3(PKP2):c.288T>G (p.Asp96Glu)]

NM_001005242.3(PKP2):c.288T>G (p.Asp96Glu)

Gene:
PKP2:plakophilin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p11.21
Genomic location:
Preferred name:
NM_001005242.3(PKP2):c.288T>G (p.Asp96Glu)
HGVS:
  • NC_000012.12:g.32878968A>C
  • NG_009000.1:g.22879T>G
  • NM_001005242.3:c.288T>GMANE SELECT
  • NM_004572.4:c.288T>G
  • NP_001005242.2:p.Asp96Glu
  • NP_004563.2:p.Asp96Glu
  • LRG_398t1:c.288T>G
  • LRG_398:g.22879T>G
  • NC_000012.11:g.33031902A>C
  • NC_000012.11:g.33031902A>C
  • NM_004572.3:c.288T>G
Protein change:
D96E
Links:
dbSNP: rs762825735
NCBI 1000 Genomes Browser:
rs762825735
Molecular consequence:
  • NM_001005242.3:c.288T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004572.4:c.288T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005022658Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 7, 2024) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.

Guelly C, Abilova Z, Nuralinov O, Panzitt K, Akhmetova A, Rakhimova S, Kozhamkulov U, Kairov U, Molkenov A, Seisenova A, Trajanoski S, Abildinova Rashbayeva G, Kaussova G, Windpassinger C, Lee JH, Zhumadilov Z, Bekbossynova M, Akilzhanova A.

PeerJ. 2021;9:e10711. doi: 10.7717/peerj.10711.

PubMed [citation]
PMID:
33552729
PMCID:
PMC7821765

Details of each submission

From Ambry Genetics, SCV005022658.1

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

Description

The p.D96E variant (also known as c.288T>G), located in coding exon 2 of the PKP2 gene, results from a T to G substitution at nucleotide position 288. The aspartic acid at codon 96 is replaced by glutamic acid, an amino acid with highly similar properties. This variant has been detected in an individual with dilated cardiomyopathy and ventricular tachycardia (Guelly C et al. PeerJ, 2021 Jan;9:e10711). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024