NM_002230.4(JUP):c.526C>T (p.Arg176Trp) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Feb 16, 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:: RCV000244325.3

Allele description [Variation Report for NM_002230.4(JUP):c.526C>T (p.Arg176Trp)]

NM_002230.4(JUP):c.526C>T (p.Arg176Trp)

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.526C>T (p.Arg176Trp)

HGVS:

NC_000017.11:g.41769150G>A
NG_009090.2:g.22563C>T
NM_001352773.2:c.526C>T
NM_001352774.2:c.526C>T
NM_001352775.2:c.526C>T
NM_001352776.2:c.526C>T
NM_001352777.2:c.526C>T
NM_002230.4:c.526C>TMANE SELECT
NM_021991.4:c.526C>T
NP_001339702.1:p.Arg176Trp
NP_001339703.1:p.Arg176Trp
NP_001339704.1:p.Arg176Trp
NP_001339705.1:p.Arg176Trp
NP_001339706.1:p.Arg176Trp
NP_002221.1:p.Arg176Trp
NP_068831.1:p.Arg176Trp
LRG_401t2:c.526C>T
LRG_401:g.22563C>T
NC_000017.10:g.39925402G>A
NM_002230.2:c.526C>T
p.(Arg176Trp)

Protein change:

R176W

Links:

dbSNP: rs368336007

NCBI 1000 Genomes Browser:

rs368336007

Molecular consequence:

NM_001352773.2:c.526C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352774.2:c.526C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352775.2:c.526C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352776.2:c.526C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352777.2:c.526C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002230.4:c.526C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_021991.4:c.526C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000320615	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Feb 16, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 21859740, 27662471, 27930701, 28831623 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000320615

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Feb 16, 2022)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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

Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing.

Kostareva A, Kiselev A, Gudkova A, Frishman G, Ruepp A, Frishman D, Smolina N, Tarnovskaya S, Nilsson D, Zlotina A, Khodyuchenko T, Vershinina T, Pervunina T, Klyushina A, Kozlenok A, Sjoberg G, Golovljova I, Sejersen T, Shlyakhto E.

PLoS One. 2016;11(9):e0163362. doi: 10.1371/journal.pone.0163362.

PubMed [citation]

PMID:: 27662471
PMCID:: PMC5035084

See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000320615.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

This alteration is classified as likely 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 13, 2025

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