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

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 6, 2021)
Last evaluated:
Nov 19, 2020
Accession:
VCV000165416.6
Variation ID:
165416
Description:
single nucleotide variant
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NM_004817.4(TJP2):c.2636A>G (p.Gln879Arg)

Allele ID
174559
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q21.11
Genomic location
9: 69246759 (GRCh38) GRCh38 UCSC
9: 71861675 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1201:g.150853A>G
LRG_1201t1:c.2636A>G LRG_1201p1:p.Gln879Arg
NC_000009.11:g.71861675A>G
... more HGVS
Protein change
Q856R, Q879R, Q854R, Q883R, Q910R
Other names
-
Canonical SPDI
NC_000009.12:69246758:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00240 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00065
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00269
Exome Aggregation Consortium (ExAC) 0.00086
1000 Genomes Project 0.00240
The Genome Aggregation Database (gnomAD) 0.00252
Trans-Omics for Precision Medicine (TOPMed) 0.00300
Links
ClinGen: CA178180
dbSNP: rs75450131
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Feb 23, 2015 RCV000152025.2
Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 19, 2020 RCV000900846.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TJP2 - - GRCh38
GRCh37
397 452

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Feb 23, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000226785.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Nov 19, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001745796.1
Submitted: (Jul 06, 2021)
Evidence details
Benign
(Apr 30, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000200600.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
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 … (more)
Likely benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001045189.2
Submitted: (Jan 29, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TJP2 - - - -

Text-mined citations for rs75450131...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Sep 23, 2021