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NM_002230.4(JUP):c.36G>T (p.Lys12Asn) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 29, 2024
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:
RCV004513428.1

Allele description [Variation Report for NM_002230.4(JUP):c.36G>T (p.Lys12Asn)]

NM_002230.4(JUP):c.36G>T (p.Lys12Asn)

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.36G>T (p.Lys12Asn)
HGVS:
  • NC_000017.11:g.41771819C>A
  • NG_009090.2:g.19894G>T
  • NG_139335.1:g.208C>A
  • NM_001352773.2:c.36G>T
  • NM_001352774.2:c.36G>T
  • NM_001352775.2:c.36G>T
  • NM_001352776.2:c.36G>T
  • NM_001352777.2:c.36G>T
  • NM_002230.4:c.36G>TMANE SELECT
  • NM_021991.4:c.36G>T
  • NP_001339702.1:p.Lys12Asn
  • NP_001339703.1:p.Lys12Asn
  • NP_001339704.1:p.Lys12Asn
  • NP_001339705.1:p.Lys12Asn
  • NP_001339706.1:p.Lys12Asn
  • NP_002221.1:p.Lys12Asn
  • NP_002221.1:p.Lys12Asn
  • NP_068831.1:p.Lys12Asn
  • NP_068831.1:p.Lys12Asn
  • LRG_401t1:c.36G>T
  • LRG_401t2:c.36G>T
  • LRG_401:g.19894G>T
  • LRG_401p1:p.Lys12Asn
  • LRG_401p2:p.Lys12Asn
  • NC_000017.10:g.39928071C>A
  • NM_002230.2:c.36G>T
  • NM_021991.2:c.36G>T
Protein change:
K12N
Molecular consequence:
  • NM_001352773.2:c.36G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352774.2:c.36G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352775.2:c.36G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352776.2:c.36G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352777.2:c.36G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002230.4:c.36G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021991.4:c.36G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005018057Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 29, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005018057.1

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

Description

The p.K12N variant (also known as c.36G>T), located in coding exon 1 of the JUP gene, results from a G to T substitution at nucleotide position 36. The lysine at codon 12 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024