NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg) AND not specified

Clinical significance:Benign (Last evaluated: Feb 23, 2015)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000152025.2

Allele description [Variation Report for NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg)]

NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg)

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.2636A>G (p.Gln879Arg)
HGVS:
  • NC_000009.12:g.69246759A>G
  • NG_016342.1:g.130452A>G
  • NG_016342.2:g.150853A>G
  • NM_001170414.2:c.2567A>G
  • NM_001170415.1:c.2648A>G
  • NM_001170416.2:c.2729A>G
  • NM_001369870.1:c.2561A>G
  • NM_001369871.1:c.2567A>G
  • NM_001369872.1:c.2636A>G
  • NM_001369873.1:c.2636A>G
  • NM_001369874.1:c.2648A>G
  • NM_001369875.1:c.2648A>G
  • NM_004817.4:c.2636A>GMANE SELECT
  • NM_201629.3:c.2636A>G
  • NP_001163885.1:p.Gln856Arg
  • NP_001163886.1:p.Gln883Arg
  • NP_001163887.1:p.Gln910Arg
  • NP_001356799.1:p.Gln854Arg
  • NP_001356800.1:p.Gln856Arg
  • NP_001356801.1:p.Gln879Arg
  • NP_001356802.1:p.Gln879Arg
  • NP_001356803.1:p.Gln883Arg
  • NP_001356804.1:p.Gln883Arg
  • NP_004808.2:p.Gln879Arg
  • NP_963923.1:p.Gln879Arg
  • LRG_1201t1:c.2636A>G
  • LRG_1201:g.150853A>G
  • LRG_1201p1:p.Gln879Arg
  • NC_000009.11:g.71861675A>G
  • NM_001170414.1:c.2567A>G
  • NM_004817.3:c.2636A>G
Protein change:
Q854R
Links:
dbSNP: rs75450131
NCBI 1000 Genomes Browser:
rs75450131
Molecular consequence:
  • NM_001170414.2:c.2567A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001170415.1:c.2648A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001170416.2:c.2729A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369870.1:c.2561A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369871.1:c.2567A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369872.1:c.2636A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369873.1:c.2636A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369874.1:c.2648A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369875.1:c.2648A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004817.4:c.2636A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_201629.3:c.2636A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000200600Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Apr 30, 2012)
germlineclinical testing

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

SCV000226785EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Feb 23, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing
not providedgermlinenot provided22not providednot providednot providedclinical 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, SCV000200600.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

Gln856Arg in Exon 19 of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 0.7% (28/3738) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs75450131).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000226785.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 23, 2021

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