NM_004817.3(TJP2):c.1446C>A (p.Asp482Glu) AND not specified

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: May 7, 2012
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:: RCV000037067.2

Allele description

NM_004817.3(TJP2):c.1446C>A (p.Asp482Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q21.11

Genomic location:

Preferred name:

NM_004817.3(TJP2):c.1446C>A (p.Asp482Glu)

HGVS:

NC_000009.12:g.69228107C>A
NG_016342.1:g.111800C>A
NM_001170414.2:c.1377C>A
NM_004817.3:c.1446C>A
NP_001163885.1:p.Asp459Glu
NP_004808.2:p.Asp482Glu
NC_000009.11:g.71843023C>A
NM_001170414.1:c.1377C>A
Q9UDY2:p.Asp482Glu
c.1377C>A

Protein change:

D459E

Links:

UniProtKB: Q9UDY2#VAR_030798; dbSNP: rs2309428

GMAF:

0.2278(C), 2309428

NCBI 1000 Genomes Browser:

rs2309428

Allele Frequency:

0.758, GO-ESP

Molecular consequence:

NM_004817.3:c.1446C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

600

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000060723	Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (May 7, 2012)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000060723

Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(May 7, 2012)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	605	600	not provided	not provided	not provided	clinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000060723.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	605	not provided	not provided	clinical testing	PubMed (1)

Description

Asp459Glu in Exon 10 of TJP2: This variant is not expected to have clinical significance because it has been identified in 34.3% (1284/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2309428).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		605	not provided	600	not provided

Last Updated: Sep 23, 2016

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