NM_002230.4(JUP):c.1667T>C (p.Met556Thr) AND not provided

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Jul 25, 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:: RCV000439893.7

Allele description [Variation Report for NM_002230.4(JUP):c.1667T>C (p.Met556Thr)]

NM_002230.4(JUP):c.1667T>C (p.Met556Thr)

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.1667T>C (p.Met556Thr)

HGVS:

NC_000017.11:g.41758505A>G
NG_009090.2:g.33208T>C
NM_001352773.2:c.1667T>C
NM_001352774.2:c.1667T>C
NM_001352775.2:c.1667T>C
NM_001352776.2:c.1667T>C
NM_001352777.2:c.1667T>C
NM_002230.4:c.1667T>CMANE SELECT
NM_021991.4:c.1667T>C
NP_001339702.1:p.Met556Thr
NP_001339703.1:p.Met556Thr
NP_001339704.1:p.Met556Thr
NP_001339705.1:p.Met556Thr
NP_001339706.1:p.Met556Thr
NP_002221.1:p.Met556Thr
NP_068831.1:p.Met556Thr
LRG_401t2:c.1667T>C
LRG_401:g.33208T>C
NC_000017.10:g.39914757A>G
NM_002230.2:c.1667T>C

Protein change:

M556T

Links:

dbSNP: rs781884735

NCBI 1000 Genomes Browser:

rs781884735

Molecular consequence:

NM_001352773.2:c.1667T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352774.2:c.1667T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352775.2:c.1667T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352776.2:c.1667T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001352777.2:c.1667T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002230.4:c.1667T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_021991.4:c.1667T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000520046	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jul 25, 2024)	germline	clinical testing	Citation Link,
SCV001929749	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Uncertain significance	germline	clinical testing
SCV001958141	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Uncertain significance	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000520046

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jul 25, 2024)

germline

clinical testing

Citation Link,

SCV001929749

Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Uncertain significance

germline

clinical testing

SCV001958141

Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided

Uncertain significance

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000520046.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001929749.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001958141.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine