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NM_002230.4(JUP):c.56C>T (p.Thr19Ile) AND Primary dilated cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 26, 2021
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:
RCV001375636.1

Allele description [Variation Report for NM_002230.4(JUP):c.56C>T (p.Thr19Ile)]

NM_002230.4(JUP):c.56C>T (p.Thr19Ile)

Gene:
JUP:junction plakoglobin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_002230.4(JUP):c.56C>T (p.Thr19Ile)
HGVS:
  • NC_000017.11:g.41771799G>A
  • NG_009090.2:g.19914C>T
  • NM_001352773.2:c.56C>T
  • NM_001352774.2:c.56C>T
  • NM_001352775.2:c.56C>T
  • NM_001352776.2:c.56C>T
  • NM_001352777.2:c.56C>T
  • NM_002230.4:c.56C>TMANE SELECT
  • NM_021991.4:c.56C>T
  • NP_001339702.1:p.Thr19Ile
  • NP_001339703.1:p.Thr19Ile
  • NP_001339704.1:p.Thr19Ile
  • NP_001339705.1:p.Thr19Ile
  • NP_001339706.1:p.Thr19Ile
  • NP_002221.1:p.Thr19Ile
  • NP_068831.1:p.Thr19Ile
  • LRG_401t1:c.56C>T
  • LRG_401t2:c.56C>T
  • LRG_401:g.19914C>T
  • NC_000017.10:g.39928051G>A
  • NM_002230.2:c.56C>T
  • NM_021991.2:c.56C>T
  • P14923:p.Thr19Ile
Protein change:
T19I
Links:
UniProtKB: P14923#VAR_065698; dbSNP: rs570878629
NCBI 1000 Genomes Browser:
rs570878629
Molecular consequence:
  • NM_001352773.2:c.56C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352774.2:c.56C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352775.2:c.56C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352776.2:c.56C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352777.2:c.56C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002230.4:c.56C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021991.4:c.56C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
7

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001572561Loeys Lab, Universiteit Antwerpen
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 26, 2021) 		somaticclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes77not provided7not providedclinical testing

Citations

PubMed

Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

den Haan AD, Tan BY, Zikusoka MN, Lladó LI, Jain R, Daly A, Tichnell C, James C, Amat-Alarcon N, Abraham T, Russell SD, Bluemke DA, Calkins H, Dalal D, Judge DP.

Circ Cardiovasc Genet. 2009 Oct;2(5):428-35. doi: 10.1161/CIRCGENETICS.109.858217. Epub 2009 Jun 3.

PubMed [citation]
PMID:
20031617
PMCID:
PMC2801867

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.

Garcia-Pavia P, Syrris P, Salas C, Evans A, Mirelis JG, Cobo-Marcos M, Vilches C, Bornstein B, Segovia J, Alonso-Pulpon L, Elliott PM.

Heart. 2011 Nov;97(21):1744-52. doi: 10.1136/hrt.2011.227967. Epub 2011 Aug 22.

PubMed [citation]
PMID:
21859740
See all PubMed Citations (4)

Details of each submission

From Loeys Lab, Universiteit Antwerpen, SCV001572561.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednoclinical testing PubMed (4)

Description

This sequence change results in a missense variant in the JUP gene ( p.cThr19Ile)). This variant is present in population databases with a prevalence of 33/280798in GnomAD (BS1). This variant has been reported in the literature. It was found in different individuals with ARVC and co-seggregated with disease in a family with DCM and arrhythmia (Garcia-Pavia 2011; den Haan 2009; PP1). The variant has been identified in a case of SCD with DCM and additional cardiac variants (Haggerty CM et al, 2017; BP5). No functional data are available. Prediction programs show conflicting results ( Align GVGD C0; Polyphen-2-HumDiv possibly damaging; Polyphen-2-HumVar possivley damaging; SIFT: tolerated; MutationTaster: disease causing). In conclusion this variant was classified as a variant of unknown significance according to ACMG-guidelines (criteria for benign and pathogenic are contradictory: BS1, PP1; BP5).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyes7Bloodnot provided7not provided7not provided

Last Updated: Jan 13, 2025