NM_004817.4(TJP2):c.3140G>A (p.Arg1047Gln) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Jan 9, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000512776.20

Allele description [Variation Report for NM_004817.4(TJP2):c.3140G>A (p.Arg1047Gln)]

NM_004817.4(TJP2):c.3140G>A (p.Arg1047Gln)

Gene:

TJP2:tight junction protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q21.11

Genomic location:

Preferred name:

NM_004817.4(TJP2):c.3140G>A (p.Arg1047Gln)

HGVS:

NC_000009.12:g.69251183G>A
NG_016342.2:g.155277G>A
NM_001170414.2:c.2812-1632G>A
NM_001170415.1:c.3041G>A
NM_001170416.2:c.3233G>A
NM_001369870.1:c.3065G>A
NM_001369871.1:c.3071G>A
NM_001369872.1:c.3029G>A
NM_001369873.1:c.2816G>A
NM_001369874.1:c.2893-1632G>A
NM_001369875.1:c.3152G>A
NM_004817.4:c.3140G>AMANE SELECT
NM_201629.3:c.2881-1632G>A
NP_001163886.1:p.Arg1014Gln
NP_001163887.1:p.Arg1078Gln
NP_001356799.1:p.Arg1022Gln
NP_001356800.1:p.Arg1024Gln
NP_001356801.1:p.Arg1010Gln
NP_001356802.1:p.Arg939Gln
NP_001356804.1:p.Arg1051Gln
NP_004808.2:p.Arg1047Gln
LRG_1201t1:c.3140G>A
LRG_1201:g.155277G>A
LRG_1201p1:p.Arg1047Gln
NC_000009.11:g.71866099G>A
NG_016342.1:g.134876G>A

Protein change:

R1010Q

Links:

dbSNP: rs191327525

NCBI 1000 Genomes Browser:

rs191327525

Molecular consequence:

NM_001170414.2:c.2812-1632G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001369874.1:c.2893-1632G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_201629.3:c.2881-1632G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001170415.1:c.3041G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001170416.2:c.3233G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369870.1:c.3065G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369871.1:c.3071G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369872.1:c.3029G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369873.1:c.2816G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001369875.1:c.3152G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004817.4:c.3140G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000609339	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Uncertain significance (Jun 1, 2017)	germline	clinical testing	Citation Link,
SCV000859101	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Jan 9, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000609339

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Uncertain significance
(Jun 1, 2017)

germline

clinical testing

Citation Link,

SCV000859101

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Jan 9, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000609339.25

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

From Eurofins Ntd Llc (ga), SCV000859101.1

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

Last Updated: Apr 15, 2024

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