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NM_005149.3(TBX19):c.535C>T (p.Arg179Ter)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Feb 1, 2019)
Last evaluated:
Nov 13, 2017
Accession:
VCV000293458.2
Variation ID:
293458
Description:
single nucleotide variant
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NM_005149.3(TBX19):c.535C>T (p.Arg179Ter)

Allele ID
278136
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q24.2
Genomic location
1: 168293210 (GRCh38) GRCh38 UCSC
1: 168262448 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.168262448C>T
NC_000001.11:g.168293210C>T
NG_008244.1:g.17171C>T
NM_005149.3:c.535C>T MANE Select NP_005140.1:p.Arg179Ter nonsense
Protein change
R179*
Other names
-
Canonical SPDI
NC_000001.11:168293209:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00006
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
Links
ClinGen: CA1230523
dbSNP: rs200197424
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, single submitter Nov 13, 2017 RCV000406538.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TBX19 - - GRCh38
GRCh37
97 115

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 13, 2017)
criteria provided, single submitter
Method: clinical testing
Adrenocorticotropic hormone deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000350424.3
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (1)
Comment:
The TBX19 c.535C>T (p.Arg179Ter) is a stop-gained variant that is predicted to result in premature termination of the protein. The p.Arg179Ter variant has been reported … (more)
Pathogenic
(May 28, 2014)
no assertion criteria provided
Method: clinical testing
Adrenocorticotropic hormone deficiency
Allele origin: germline
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
Accession: SCV000805091.1
Submitted: (Jul 17, 2018)
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
Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. Pulichino AM Genes & development 2003 PMID: 12651888

Text-mined citations for rs200197424...

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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 06, 2021