NM_032638.5(GATA2):c.1018-1G>T AND Monocytopenia with susceptibility to infections

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 8, 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:: RCV000022568.28

Allele description [Variation Report for NM_032638.5(GATA2):c.1018-1G>T]

NM_032638.5(GATA2):c.1018-1G>T

Gene:

GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.3

Genomic location:

Preferred name:

NM_032638.5(GATA2):c.1018-1G>T

HGVS:

NC_000003.12:g.128481945C>A
NG_029334.1:g.16243G>T
NM_001145661.2:c.1018-1G>T
NM_001145662.1:c.1018-43G>T
NM_032638.5:c.1018-1G>TMANE SELECT
LRG_295t1:c.1018-1G>T
LRG_295:g.16243G>T
NC_000003.11:g.128200788C>A
NM_001145661.1:c.1018-1G>T

Nucleotide change:

IVS4AS, G-T, -1

Links:

OMIM: 137295.0008; dbSNP: rs869320668

NCBI 1000 Genomes Browser:

rs869320668

Molecular consequence:

NM_001145662.1:c.1018-43G>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001145661.2:c.1018-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_032638.5:c.1018-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Monocytopenia with susceptibility to infections
Synonyms:: MONOCYTOPENIA AND MYCOBACTERIAL INFECTION SYNDROME; MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUS INFECTIONS AND MYELODYSPLASIA; COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0013607; MedGen: C3280030; Orphanet: 228423; OMIM: 614172

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Mus musculus alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (Adh7),...
Mus musculus alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (Adh7), mRNA
gi|6752983|ref|NM_009626.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000043857	OMIM	no assertion criteria provided	Pathogenic (Sep 8, 2011)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 21242295, 21765025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000043857

OMIM

no assertion criteria provided

Pathogenic
(Sep 8, 2011)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency.

Bigley V, Haniffa M, Doulatov S, Wang XN, Dickinson R, McGovern N, Jardine L, Pagan S, Dimmick I, Chua I, Wallis J, Lordan J, Morgan C, Kumararatne DS, Doffinger R, van der Burg M, van Dongen J, Cant A, Dick JE, Hambleton S, Collin M.

J Exp Med. 2011 Feb 14;208(2):227-34. doi: 10.1084/jem.20101459. Epub 2011 Jan 17.

PubMed [citation]

PMID:: 21242295
PMCID:: PMC3039861

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, Lakey JH, Rahman T, Wang XN, McGovern N, Pagan S, Cookson S, McDonald D, Chua I, Wallis J, Cant A, Wright M, Keavney B, Chinnery PF, Loughlin J, Hambleton S, Santibanez-Koref M, et al.

Blood. 2011 Sep 8;118(10):2656-8. doi: 10.1182/blood-2011-06-360313. Epub 2011 Jul 15.

PubMed [citation]

PMID:: 21765025
PMCID:: PMC5137783

Details of each submission

From OMIM, SCV000043857.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a patient with IMD21 (614172), previously reported by Bigley et al. (2011), Dickinson et al. (2011) identified a G-to-T transversion in intron 4 of the GATA2 gene (1018-1G-T of the GATA2 cDNA). The mutation was predicted to cause skipping of exon 5 and deletion of amino acids 340 to 381, resulting in loss of the C-terminal zinc finger.

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

Last Updated: Sep 29, 2024

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