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

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 2, 2022
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:
RCV000253975.4

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]

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
SCV000318937Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Sep 2, 2022) 		germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot 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

Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Tan BY, Jain R, den Haan AD, Chen Y, Dalal D, Tandri H, Amat-Alarcon N, Daly A, Tichnell C, James C, Calkins H, Judge DP.

J Cardiovasc Transl Res. 2010 Dec;3(6):663-73. doi: 10.1007/s12265-010-9224-4. Epub 2010 Sep 21.

PubMed [citation]
PMID:
20857253
PMCID:
PMC3138067
See all PubMed Citations (9)

Details of each submission

From Ambry Genetics, SCV000318937.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Jan 13, 2025