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NM_004817.4(TJP2):c.1091C>T (p.Thr364Met)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 23, 2021)
Last evaluated:
Jul 10, 2020
Accession:
VCV000178639.6
Variation ID:
178639
Description:
single nucleotide variant
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NM_004817.4(TJP2):c.1091C>T (p.Thr364Met)

Allele ID
174554
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
9q21.11
Genomic location
9: 69226056 (GRCh38) GRCh38 UCSC
9: 71840972 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1201:g.130150C>T
NM_001170414.2:c.1022C>T NP_001163885.1:p.Thr341Met missense
NC_000009.11:g.71840972C>T
... more HGVS
Protein change
T341M, T364M, T368M, T395M
Other names
-
Canonical SPDI
NC_000009.12:69226055:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00978 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00608
1000 Genomes Project 0.00978
Exome Aggregation Consortium (ExAC) 0.00216
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00600
The Genome Aggregation Database (gnomAD), exomes 0.00171
The Genome Aggregation Database (gnomAD) 0.00637
Links
ClinGen: CA182713
dbSNP: rs77321498
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 Jul 10, 2020 RCV000155394.5
Benign 2 criteria provided, multiple submitters, no conflicts Dec 31, 2019 RCV000891538.3
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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 07, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000205081.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Thr341Met in Exon 08 of TJP2: This variant is not expected to have clinical sign ificance because it has been identified in 1.8% (66/3736) of … (more)
Benign
(Jul 10, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001474917.1
Submitted: (Dec 30, 2020)
Evidence details
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001035359.2
Submitted: (Jan 29, 2020)
Evidence details
Benign
(May 20, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000726165.2
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.

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 rs77321498...

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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 24, 2021