NM_002230.4(JUP):c.406G>C (p.Asp136His) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Nov 20, 2013
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:: RCV000183484.3

Allele description [Variation Report for NM_002230.4(JUP):c.406G>C (p.Asp136His)]

NM_002230.4(JUP):c.406G>C (p.Asp136His)

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.406G>C (p.Asp136His)

Other names:

p.D136H:GAT>CAT

HGVS:

NC_000017.11:g.41769480C>G
NG_009090.2:g.22233G>C
NM_001352773.2:c.406G>C
NM_001352774.2:c.406G>C
NM_001352775.2:c.406G>C
NM_001352776.2:c.406G>C
NM_001352777.2:c.406G>C
NM_002230.4:c.406G>CMANE SELECT
NM_021991.4:c.406G>C
NP_001339702.1:p.Asp136His
NP_001339703.1:p.Asp136His
NP_001339704.1:p.Asp136His
NP_001339705.1:p.Asp136His
NP_001339706.1:p.Asp136His
NP_002221.1:p.Asp136His
NP_068831.1:p.Asp136His
LRG_401t2:c.406G>C
LRG_401:g.22233G>C
NC_000017.10:g.39925732C>G
NM_002230.2:c.406G>C

Protein change:

D136H

Links:

dbSNP: rs782392706

NCBI 1000 Genomes Browser:

rs782392706

Molecular consequence:

NM_001352773.2:c.406G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352774.2:c.406G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352775.2:c.406G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352776.2:c.406G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352777.2:c.406G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002230.4:c.406G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_021991.4:c.406G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000235944	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely pathogenic (Nov 20, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000235944

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely pathogenic
(Nov 20, 2013)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000235944.9

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

p.Asp136His (GAT>CAT): c.406 G>C in exon 3 of the JUP gene (NM_002230.2). The Asp136His variant in the JUP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Asp136His results in a non-conservative amino acid substitution of a negatively charged Aspartic acid to a positively charged Histidine at a position that is conserved across species. In silico analysis predicts Asp136His is probably damaging to the protein structure/function. Furthermore, the Asp136His variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant is found in ARRHYTHMIA panel(s).

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

Last Updated: Sep 29, 2024

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