NM_001145661.2(GATA2):c.761C>T (p.Pro254Leu) 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:
RCV000022560.24

Allele description [Variation Report for NM_001145661.2(GATA2):c.761C>T (p.Pro254Leu)]

NM_001145661.2(GATA2):c.761C>T (p.Pro254Leu)

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.761C>T (p.Pro254Leu)
HGVS:
  • NC_000003.12:g.128485837G>A
  • NG_029334.1:g.12351C>T
  • NM_001145661.2:c.761C>T
  • NM_001145662.1:c.761C>T
  • NM_032638.4:c.761C>T
  • NM_032638.5:c.761C>TMANE SELECT
  • NP_001139133.1:p.Pro254Leu
  • NP_001139134.1:p.Pro254Leu
  • NP_116027.2:p.Pro254Leu
  • LRG_295t2:c.761C>T
  • LRG_295:g.12351C>T
  • LRG_295p2:p.Pro254Leu
  • NC_000003.11:g.128204680G>A
  • P23769:p.Pro254Leu
Protein change:
P254L; PRO254LEU
Links:
UniProtKB: P23769#VAR_066405; OMIM: 137295.0003; dbSNP: rs387906630
NCBI 1000 Genomes Browser:
rs387906630
Molecular consequence:
  • NM_001145661.2:c.761C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145662.1:c.761C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.4:c.761C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000043849OMIMno assertion criteria providedPathogenic
(Sep 8, 2011)
germlineliterature only

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

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

Details of each submission

From OMIM, SCV000043849.2

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

Description

In a patient with IMD21 (614172), Hsu et al. (2011) identified a heterozygous C-to-T transition at nucleotide 751 of the GATA2 gene, resulting in a pro254-to-leu (P254L) substitution. The P254L substitution occurred before the zinc finger domains of GATA2 and was predicted to be damaging.

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

Last Updated: Jul 26, 2021

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