NM_005149.3(TBX19):c.535C>T (p.Arg179Ter) AND Adrenocorticotropic hormone deficiency

Clinical significance:Uncertain significance (Last evaluated: Nov 13, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000406538.3

Allele description [Variation Report for NM_005149.3(TBX19):c.535C>T (p.Arg179Ter)]

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

Gene:
TBX19:T-box transcription factor 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q24.2
Genomic location:
Preferred name:
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter)
HGVS:
  • NC_000001.11:g.168293210C>T
  • NG_008244.1:g.17171C>T
  • NM_005149.3:c.535C>TMANE SELECT
  • NP_005140.1:p.Arg179Ter
  • NC_000001.10:g.168262448C>T
  • NM_005149.2:c.535C>T
Protein change:
R179*
Links:
dbSNP: rs200197424
NCBI 1000 Genomes Browser:
rs200197424
Molecular consequence:
  • NM_005149.3:c.535C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Adrenocorticotropic hormone deficiency (IAD)
Synonyms:
ACTH DEFICIENCY, ISOLATED; ACTH deficiency; Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008720; MedGen: C0342388; Orphanet: 199296; OMIM: 201400; Human Phenotype Ontology: HP:0011748

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000350424Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Nov 13, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV000805091Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospitalno assertion criteria providedPathogenic
(May 28, 2014)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency.

Pulichino AM, Vallette-Kasic S, Couture C, Gauthier Y, Brue T, David M, Malpuech G, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, Drouin J.

Genes Dev. 2003 Mar 15;17(6):711-6.

PubMed [citation]
PMID:
12651888
PMCID:
PMC196015

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000350424.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

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 in a single study in which it was identified in a homozygous state in one individual with neonatal onset ACTH deficiency and in a heterozygous state in the unaffected consanguineous parents (Pulichino et al. 2003). Control data are unavailable for this variant, which is reported at a frequency of 0.00004 in the European (non-Finnish) population of the Exome Aggregation Consortium. Based on the evidence and potential impact of stop-gained variants, the p.Arg179Ter variant is classified as a variant of unknown significance, but suspicious for pathogenicity, for ACTH deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital, SCV000805091.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 6, 2021

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