NM_002230.4(JUP):c.475G>T (p.Val159Leu) AND Cardiovascular phenotype

Germline classification:: Likely benign (1 submission)
Last evaluated:: Mar 23, 2023
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:: RCV002330914.4

Allele description [Variation Report for NM_002230.4(JUP):c.475G>T (p.Val159Leu)]

NM_002230.4(JUP):c.475G>T (p.Val159Leu)

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.475G>T (p.Val159Leu)

HGVS:

NC_000017.11:g.41769201C>A
NG_009090.2:g.22512G>T
NM_001352773.2:c.475G>T
NM_001352774.2:c.475G>T
NM_001352775.2:c.475G>T
NM_001352776.2:c.475G>T
NM_001352777.2:c.475G>T
NM_002230.4:c.475G>TMANE SELECT
NM_021991.4:c.475G>T
NP_001339702.1:p.Val159Leu
NP_001339703.1:p.Val159Leu
NP_001339704.1:p.Val159Leu
NP_001339705.1:p.Val159Leu
NP_001339706.1:p.Val159Leu
NP_002221.1:p.Val159Leu
NP_068831.1:p.Val159Leu
LRG_401t2:c.475G>T
LRG_401:g.22512G>T
NC_000017.10:g.39925453C>A
NM_002230.2:c.475G>T
NM_021991.4:c.475G>T

Protein change:

V159L

Links:

dbSNP: rs782702266

NCBI 1000 Genomes Browser:

rs782702266

Molecular consequence:

NM_001352773.2:c.475G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352774.2:c.475G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352775.2:c.475G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352776.2:c.475G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001352777.2:c.475G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_002230.4:c.475G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_021991.4:c.475G>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
SCV002633650	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Likely benign (Mar 23, 2023)	germline	clinical testing	PubMed (9) [See all records that cite these PMIDs] 18672408, 20152563, 25820315, 26230511, 27930701, 28471438, 31402444, 32268277, 33919104 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002633650

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Likely benign
(Mar 23, 2023)

germline

clinical testing

PubMed (9)
[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

A woman with incidental findings of ventricular aneurysms and a desmosomal cardiomyopathy.

Ly S, Marcus FI, Xu T, Towbin JA.

Heart Rhythm. 2008 Oct;5(10):1455-7. doi: 10.1016/j.hrthm.2008.05.025. Epub 2008 May 29. No abstract available.

PubMed [citation]

PMID:: 18672408
PMCID:: PMC2585004

Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy.

Xu T, Yang Z, Vatta M, Rampazzo A, Beffagna G, Pilichou K, Scherer SE, Saffitz J, Kravitz J, Zareba W, Danieli GA, Lorenzon A, Nava A, Bauce B, Thiene G, Basso C, Calkins H, Gear K, Marcus F, Towbin JA; Multidisciplinary Study of Right Ventricular Dysplasia Investigators..

J Am Coll Cardiol. 2010 Feb 9;55(6):587-97. doi: 10.1016/j.jacc.2009.11.020. Erratum in: J Am Coll Cardiol. 2010 Mar 30;55(13):1401. Pillichou, Kalliopi [corrected to Pilichou, Kalliopi].

PubMed [citation]

PMID:: 20152563
PMCID:: PMC2852685

See all PubMed Citations (9)

Details of each submission

From Ambry Genetics, SCV002633650.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

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: Sep 29, 2024

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