NM_001145661.2(GATA2):c.1018-1G>T AND Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

Clinical significance:Pathogenic (Last evaluated: Sep 8, 2011)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000022568.28

Allele description [Variation Report for NM_001145661.2(GATA2):c.1018-1G>T]

NM_001145661.2(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_001145661.2(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_032638.4:c.1018-1G>T
  • NM_032638.5:c.1018-1G>TMANE SELECT
  • LRG_295t1:c.1018-1G>T
  • LRG_295t2: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_032638.4:c.1018-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency (IMD21)
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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000043857OMIMno assertion criteria providedPathogenic
(Sep 8, 2011)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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.

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

Last Updated: Jul 26, 2021

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