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NM_002230.4(JUP):c.849G>T (p.Lys283Asn) AND not provided

Germline classification:
Uncertain significance (3 submissions)
Last evaluated:
May 21, 2018
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:
RCV000183510.5

Allele description [Variation Report for NM_002230.4(JUP):c.849G>T (p.Lys283Asn)]

NM_002230.4(JUP):c.849G>T (p.Lys283Asn)

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.849G>T (p.Lys283Asn)
Other names:
p.K283N:AAG>AAT
HGVS:
  • NC_000017.11:g.41767439C>A
  • NG_009090.2:g.24274G>T
  • NM_001352773.2:c.849G>T
  • NM_001352774.2:c.849G>T
  • NM_001352775.2:c.849G>T
  • NM_001352776.2:c.849G>T
  • NM_001352777.2:c.849G>T
  • NM_002230.4:c.849G>TMANE SELECT
  • NM_021991.4:c.849G>T
  • NP_001339702.1:p.Lys283Asn
  • NP_001339703.1:p.Lys283Asn
  • NP_001339704.1:p.Lys283Asn
  • NP_001339705.1:p.Lys283Asn
  • NP_001339706.1:p.Lys283Asn
  • NP_002221.1:p.Lys283Asn
  • NP_068831.1:p.Lys283Asn
  • LRG_401t2:c.849G>T
  • LRG_401:g.24274G>T
  • NC_000017.10:g.39923691C>A
  • NM_002230.2:c.849G>T
Protein change:
K283N
Links:
dbSNP: rs794729054
NCBI 1000 Genomes Browser:
rs794729054
Molecular consequence:
  • NM_001352773.2:c.849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352774.2:c.849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352775.2:c.849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352776.2:c.849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352777.2:c.849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002230.4:c.849G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021991.4:c.849G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000235970GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(May 21, 2018) 		germlineclinical testing

Citation Link,

SCV001739534Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus
no assertion criteria provided
Uncertain significancegermlineclinical testing

SCV001969864Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Uncertain significancegermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000235970.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The K283N variant of uncertain significance in the JUP gene has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 3/111,686 (0.003%) European (non-Finnish) alleles in large population cohorts (Lek et al., 2016). The K283N variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Finally, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001739534.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001969864.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025