NM_002230.4(JUP):c.286G>A (p.Glu96Lys) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 6, 2014
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:: RCV000183483.1

Allele description [Variation Report for NM_002230.4(JUP):c.286G>A (p.Glu96Lys)]

NM_002230.4(JUP):c.286G>A (p.Glu96Lys)

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.286G>A (p.Glu96Lys)

Other names:

p.E96K:GAG>AAG

HGVS:

NC_000017.11:g.41769600C>T
NG_009090.2:g.22113G>A
NM_001352773.2:c.286G>A
NM_001352774.2:c.286G>A
NM_001352775.2:c.286G>A
NM_001352776.2:c.286G>A
NM_001352777.2:c.286G>A
NM_002230.4:c.286G>AMANE SELECT
NM_021991.4:c.286G>A
NP_001339702.1:p.Glu96Lys
NP_001339703.1:p.Glu96Lys
NP_001339704.1:p.Glu96Lys
NP_001339705.1:p.Glu96Lys
NP_001339706.1:p.Glu96Lys
NP_002221.1:p.Glu96Lys
NP_068831.1:p.Glu96Lys
LRG_401t1:c.286G>A
LRG_401t2:c.286G>A
LRG_401:g.22113G>A
NC_000017.10:g.39925852C>T
NM_002230.2:c.286G>A
NM_021991.2:c.286G>A

Protein change:

E96K

Links:

dbSNP: rs191683892

NCBI 1000 Genomes Browser:

rs191683892

Molecular consequence:

NM_001352773.2:c.286G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352774.2:c.286G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352775.2:c.286G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352776.2:c.286G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001352777.2:c.286G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002230.4:c.286G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_021991.4:c.286G>A - 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
SCV000235943	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Feb 6, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000235943

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Feb 6, 2014)

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, SCV000235943.10

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

Description

p.Glu96Lys (GAG>AAG): c.286 G>A in exon 3 of the JUP gene (NM_002230.2)The E96K variant in the JUP gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. The E96K variant is a non-conservative amino acid substitution as these residues differ in polarity, charge, size and/or other properties and is more likely to impact secondary structure. The E96 residue is mostly conserved across species. In silico analysis was inconsistent with regard to the effect this variant may have on the protein structure/function. The E96K 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. However, the E96K variant was identified with a frequency of 0.8%, 1/118 alleles, in a sub-population of individuals of Mexican ancestry per the 1000 Genomes Project database. The variant is found in ARVC 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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