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NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg) AND Deafness-lymphedema-leukemia syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 4, 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:
RCV000022572.27

Allele description [Variation Report for NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg)]

NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg)

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.1117T>C (p.Cys373Arg)
HGVS:
  • NC_000003.12:g.128481845A>G
  • NG_029334.1:g.16343T>C
  • NM_001145661.2:c.1117T>C
  • NM_001145662.1:c.1075T>C
  • NM_032638.5:c.1117T>CMANE SELECT
  • NP_001139133.1:p.Cys373Arg
  • NP_001139134.1:p.Cys359Arg
  • NP_116027.2:p.Cys373Arg
  • NP_116027.2:p.Cys373Arg
  • LRG_295t2:c.1117T>C
  • LRG_295:g.16343T>C
  • LRG_295p2:p.Cys373Arg
  • NC_000003.11:g.128200688A>G
  • NM_032638.4:c.1117T>C
  • P23769:p.Cys373Arg
Protein change:
C359R; CYS373ARG
Links:
UniProtKB: P23769#VAR_066645; OMIM: 137295.0012; dbSNP: rs387906633
NCBI 1000 Genomes Browser:
rs387906633
Molecular consequence:
  • NM_001145661.2:c.1117T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145662.1:c.1075T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.5:c.1117T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deafness-lymphedema-leukemia syndrome
Synonyms:
Lymphedema, primary, with myelodysplasia; Emberger syndrome
Identifiers:
MONDO: MONDO:0013540; MedGen: C3279664; Orphanet: 3226; OMIM: 614038

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000043861OMIM
no assertion criteria provided
Pathogenic
(Sep 4, 2011) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, Dafou D, Kilo T, Smithson S, Lunt P, Murday VA, Hodgson S, Keenan R, Pilz DT, Martinez-Corral I, Makinen T, Mortimer PS, Jeffery S, Trembath RC, Mansour S.

Nat Genet. 2011 Sep 4;43(10):929-31. doi: 10.1038/ng.923.

PubMed [citation]
PMID:
21892158

Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.

Mansour S, Connell F, Steward C, Ostergaard P, Brice G, Smithson S, Lunt P, Jeffery S, Dokal I, Vulliamy T, Gibson B, Hodgson S, Cottrell S, Kiely L, Tinworth L, Kalidas K, Mufti G, Cornish J, Keenan R, Mortimer P, Murday V; Lymphoedema Research Consortium..

Am J Med Genet A. 2010 Sep;152A(9):2287-96. doi: 10.1002/ajmg.a.33445.

PubMed [citation]
PMID:
20803646

Details of each submission

From OMIM, SCV000043861.1

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

Description

In a sporadic male patient who developed genital and bilateral lower limb edema at 8 years of age and myelodysplasia at age 16 years (Emberger syndrome; 614038), who also had persistent warts on his fingers, Ostergaard et al. (2011) identified heterozygosity for a 1117T-C transition in exon 4 of the GATA2 gene, resulting in a cys373-to-arg (C373R) substitution at a conserved residue within the second C(4) zinc finger domain. The patient was 'patient 2' reported by Mansour et al. (2010). The mutation was not found in 300 unrelated control chromosomes. Functional analysis in transfected HEK293T cells demonstrated significant reduction in transactivation activity with C373R compared to wildtype. The patient died at 16 years of age.

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

Last Updated: Apr 23, 2022