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NM_004817.4(TJP2):c.698G>A (p.Arg233Gln)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 23, 2021)
Last evaluated:
Dec 15, 2020
Accession:
VCV000165406.5
Variation ID:
165406
Description:
single nucleotide variant
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NM_004817.4(TJP2):c.698G>A (p.Arg233Gln)

Allele ID
174830
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q21.11
Genomic location
9: 69221242 (GRCh38) GRCh38 UCSC
9: 71836158 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.71836158G>A
NC_000009.12:g.69221242G>A
NG_016342.1:g.104935G>A
... more HGVS
Protein change
R210Q, R233Q, R237Q, R264Q
Other names
-
Canonical SPDI
NC_000009.12:69221241:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00220 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00046
Exome Aggregation Consortium (ExAC) 0.00076
The Genome Aggregation Database (gnomAD) 0.00166
Trans-Omics for Precision Medicine (TOPMed) 0.00183
1000 Genomes Project 0.00220
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00193
Links
ClinGen: CA178164
dbSNP: rs150883816
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts May 31, 2016 RCV000152019.5
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 15, 2020 RCV000889706.3
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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
426 482

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 31, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000342569.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://www.ncbi.nlm.nih.gov/vari…
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001033408.2
Submitted: (Jan 29, 2020)
Evidence details
Likely 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: SCV000200590.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Arg210Gln in Exon 06 of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 0.4% (15/3710) of … (more)
Likely benign
(Dec 15, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000726929.2
Submitted: (Sep 23, 2021)
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.

Text-mined citations for rs150883816...

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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 25, 2021