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

Clinical significance:Likely benign (Last evaluated: Nov 19, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:

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

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

TJP2:tight junction protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg)
  • 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:
dbSNP: rs75450131
NCBI 1000 Genomes Browser:
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]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001045189Invitaecriteria provided, single submitter
Likely benign
(Dec 31, 2019)
germlineclinical testing

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

SCV001745796GeneDxcriteria provided, single submitter
Likely benign
(Nov 19, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing



Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

Details of each submission

From Invitae, SCV001045189.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001745796.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 23, 2021

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