NM_005149.3(TBX19):c.916+2T>G AND Congenital isolated adrenocorticotropic hormone deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 7, 2011
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000678898.1

Allele description [Variation Report for NM_005149.3(TBX19):c.916+2T>G]

NM_005149.3(TBX19):c.916+2T>G

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.916+2T>G

HGVS:

NC_000001.11:g.168305198T>G
NG_008244.1:g.29159T>G
NM_005149.3:c.916+2T>GMANE SELECT
NC_000001.10:g.168274436T>G
NM_005149.2:c.916+2T>G

Links:

dbSNP: rs763382655

NCBI 1000 Genomes Browser:

rs763382655

Molecular consequence:

NM_005149.3:c.916+2T>G - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:: Congenital isolated adrenocorticotropic hormone deficiency
Synonyms:: ACTH DEFICIENCY, ISOLATED; ACTH deficiency; Adrenocorticotropic hormone deficiency
Identifiers:: MONDO: MONDO:0008720; MedGen: C0342388; Orphanet: 199296; OMIM: 201400; Human Phenotype Ontology: HP:0011748

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000805095	Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	no assertion criteria provided	Uncertain significance (Sep 7, 2011)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000805095

Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

no assertion criteria provided

Uncertain significance
(Sep 7, 2011)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000805095.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

observed in trans with c.782delA

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 10, 2023

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