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NM_002230.4(JUP):c.1534C>G (p.Pro512Ala) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 29, 2023
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:
RCV004086129.1

Allele description [Variation Report for NM_002230.4(JUP):c.1534C>G (p.Pro512Ala)]

NM_002230.4(JUP):c.1534C>G (p.Pro512Ala)

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.1534C>G (p.Pro512Ala)
HGVS:
  • NC_000017.11:g.41758834G>C
  • NG_009090.2:g.32879C>G
  • NM_001352773.2:c.1534C>G
  • NM_001352774.2:c.1534C>G
  • NM_001352775.2:c.1534C>G
  • NM_001352776.2:c.1534C>G
  • NM_001352777.2:c.1534C>G
  • NM_002230.4:c.1534C>GMANE SELECT
  • NM_021991.4:c.1534C>G
  • NP_001339702.1:p.Pro512Ala
  • NP_001339703.1:p.Pro512Ala
  • NP_001339704.1:p.Pro512Ala
  • NP_001339705.1:p.Pro512Ala
  • NP_001339706.1:p.Pro512Ala
  • NP_002221.1:p.Pro512Ala
  • NP_002221.1:p.Pro512Ala
  • NP_068831.1:p.Pro512Ala
  • NP_068831.1:p.Pro512Ala
  • LRG_401t1:c.1534C>G
  • LRG_401t2:c.1534C>G
  • LRG_401:g.32879C>G
  • LRG_401p1:p.Pro512Ala
  • LRG_401p2:p.Pro512Ala
  • NC_000017.10:g.39915086G>C
  • NM_002230.2:c.1534C>G
  • NM_021991.2:c.1534C>G
Protein change:
P512A
Molecular consequence:
  • NM_001352773.2:c.1534C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352774.2:c.1534C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352775.2:c.1534C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352776.2:c.1534C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352777.2:c.1534C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002230.4:c.1534C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021991.4:c.1534C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003548123Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 29, 2023) 		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, SCV003548123.2

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

Description

The p.P512A variant (also known as c.1534C>G), located in coding exon 8 of the JUP gene, results from a C to G substitution at nucleotide position 1534. The proline at codon 512 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated 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: Nov 10, 2024