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NM_002230.4(JUP):c.1880C>T (p.Ser627Leu) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 3, 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:
RCV003298239.2

Allele description [Variation Report for NM_002230.4(JUP):c.1880C>T (p.Ser627Leu)]

NM_002230.4(JUP):c.1880C>T (p.Ser627Leu)

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.1880C>T (p.Ser627Leu)
Other names:
p.S627L:TCG>TTG
HGVS:
  • NC_000017.11:g.41757678G>A
  • NG_009090.2:g.34035C>T
  • NM_001352773.2:c.1880C>T
  • NM_001352774.2:c.1880C>T
  • NM_001352775.2:c.1880C>T
  • NM_001352776.2:c.1880C>T
  • NM_001352777.2:c.1880C>T
  • NM_002230.4:c.1880C>TMANE SELECT
  • NM_021991.4:c.1880C>T
  • NP_001339702.1:p.Ser627Leu
  • NP_001339703.1:p.Ser627Leu
  • NP_001339704.1:p.Ser627Leu
  • NP_001339705.1:p.Ser627Leu
  • NP_001339706.1:p.Ser627Leu
  • NP_002221.1:p.Ser627Leu
  • NP_068831.1:p.Ser627Leu
  • LRG_401t2:c.1880C>T
  • LRG_401:g.34035C>T
  • NC_000017.10:g.39913930G>A
  • NM_002230.2:c.1880C>T
Protein change:
S627L
Links:
dbSNP: rs781883243
NCBI 1000 Genomes Browser:
rs781883243
Molecular consequence:
  • NM_001352773.2:c.1880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352774.2:c.1880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352775.2:c.1880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352776.2:c.1880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352777.2:c.1880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002230.4:c.1880C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021991.4:c.1880C>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
SCV003996299Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 3, 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, SCV003996299.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024