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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 11, 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:
RCV004020217.1

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)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005018397Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 11, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005018397.1

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

Description

The p.D136H variant (also known as c.406G>C), located in coding exon 2 of the JUP gene, results from a G to C substitution at nucleotide position 406. The aspartic acid at codon 136 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024