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NM_004817.4(TJP2):c.2778C>T (p.Asp926=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 30, 2021)
Last evaluated:
Nov 19, 2018
Accession:
VCV000044107.4
Variation ID:
44107
Description:
single nucleotide variant
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NM_004817.4(TJP2):c.2778C>T (p.Asp926=)

Allele ID
53275
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q21.11
Genomic location
9: 69248122 (GRCh38) GRCh38 UCSC
9: 71863038 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1201:g.152216C>T
LRG_1201t1:c.2778C>T LRG_1201p1:p.Asp926=
NC_000009.11:g.71863038C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000009.12:69248121:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00699 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.01358
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01507
The Genome Aggregation Database (gnomAD) 0.01134
The Genome Aggregation Database (gnomAD), exomes 0.01404
1000 Genomes Project 0.00699
Exome Aggregation Consortium (ExAC) 0.01430
Links
ClinGen: CA133588
dbSNP: rs140442228
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 Jan 8, 2013 RCV000037083.6
Benign 2 criteria provided, multiple submitters, no conflicts Nov 19, 2018 RCV000993327.2
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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
(Jan 08, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000060740.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
This variant is not expected to have clinical significance because it does not a lter an amino acid residue and has been identified in 2.0% … (more)
Benign
(May 07, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000717889.2
Submitted: (Sep 30, 2021)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000310681.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Nov 19, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001146189.1
Submitted: (Sep 25, 2019)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs140442228...

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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 Oct 06, 2021