NM_001145661.2(GATA2):c.1084_1095del (p.Arg362_Asn365del) 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:
RCV000022565.28

Allele description [Variation Report for NM_001145661.2(GATA2):c.1084_1095del (p.Arg362_Asn365del)]

NM_001145661.2(GATA2):c.1084_1095del (p.Arg362_Asn365del)

Gene:
GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_001145661.2(GATA2):c.1084_1095del (p.Arg362_Asn365del)
HGVS:
  • NC_000003.12:g.128481868_128481879del
  • NG_029334.1:g.16310_16321del
  • NM_001145661.2:c.1084_1095del
  • NM_001145662.1:c.1042_1053del
  • NM_032638.4:c.1084_1095del
  • NM_032638.5:c.1084_1095delMANE SELECT
  • NP_001139133.1:p.Arg362_Asn365del
  • NP_001139134.1:p.Arg348_Asn351del
  • NP_116027.2:p.Arg362_Asn365del
  • LRG_295t1:c.1084_1095del
  • LRG_295t2:c.1084_1095del
  • LRG_295:g.16310_16321del
  • LRG_295p2:p.Arg362_Asn365del
  • NC_000003.11:g.128200711_128200722del
  • NM_001145661.1:c.1084_1095del
Note:
NCBI staff reviewed the sequence information reported in PubMed 21670465 Table 1 to determine the location of this allele on the current reference sequence.
Links:
OMIM: 137295.0005; dbSNP: rs869320734
NCBI 1000 Genomes Browser:
rs869320734
Molecular consequence:
  • NM_001145661.2:c.1084_1095del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001145662.1:c.1042_1053del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_032638.4:c.1084_1095del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000043854OMIMno 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

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Hsu AP, Sampaio EP, Khan J, Calvo KR, Lemieux JE, Patel SY, Frucht DM, Vinh DC, Auth RD, Freeman AF, Olivier KN, Uzel G, Zerbe CS, Spalding C, Pittaluga S, Raffeld M, Kuhns DB, Ding L, Paulson ML, Marciano BE, Gea-Banacloche JC, Orange JS, et al.

Blood. 2011 Sep 8;118(10):2653-5. doi: 10.1182/blood-2011-05-356352. Epub 2011 Jun 13.

PubMed [citation]
PMID:
21670465
PMCID:
PMC3172785

Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.

Vinh DC, Patel SY, Uzel G, Anderson VL, Freeman AF, Olivier KN, Spalding C, Hughes S, Pittaluga S, Raffeld M, Sorbara LR, Elloumi HZ, Kuhns DB, Turner ML, Cowen EW, Fink D, Long-Priel D, Hsu AP, Ding L, Paulson ML, Whitney AR, Sampaio EP, et al.

Blood. 2010 Feb 25;115(8):1519-29. doi: 10.1182/blood-2009-03-208629. Epub 2009 Dec 29.

PubMed [citation]
PMID:
20040766
PMCID:
PMC2830758

Details of each submission

From OMIM, SCV000043854.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a patient with IMD21 (614172), Hsu et al. (2011) identified a heterozygous 12-bp deletion at nucleotide 1083 of the GATA2 gene. The deletion resulted in the in-frame removal of 4 amino acids beginning at arg361 within the loop of zinc finger-2. This patient had previously been reported by Vinh et al. (2010).

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

Last Updated: Jul 26, 2021

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