NM_032638.5(GATA2):c.1082G>T (p.Arg361Leu) 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:: RCV000022573.27

Allele description [Variation Report for NM_032638.5(GATA2):c.1082G>T (p.Arg361Leu)]

NM_032638.5(GATA2):c.1082G>T (p.Arg361Leu)

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.1082G>T (p.Arg361Leu)

HGVS:

NC_000003.12:g.128481880C>A
NG_029334.1:g.16308G>T
NM_001145661.2:c.1082G>T
NM_001145662.1:c.1040G>T
NM_032638.5:c.1082G>TMANE SELECT
NP_001139133.1:p.Arg361Leu
NP_001139134.1:p.Arg347Leu
NP_116027.2:p.Arg361Leu
LRG_295:g.16308G>T
NC_000003.11:g.128200723C>A

Protein change:

R347L; ARG361LEU

Links:

OMIM: 137295.0013; dbSNP: rs387906634

NCBI 1000 Genomes Browser:

rs387906634

Molecular consequence:

NM_001145661.2:c.1082G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001145662.1:c.1040G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_032638.5:c.1082G>T - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000043862	OMIM	no assertion criteria provided	Pathogenic (Sep 4, 2011)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000043862

OMIM

no assertion criteria provided

Pathogenic
(Sep 4, 2011)

germline

literature only

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

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

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

Details of each submission

From OMIM, SCV000043862.1

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

Description

In a sporadic male patient who developed genital and bilateral lower limb edema at 10 years of age and had a low CD4/CD8 ratio (Emberger syndrome; 614038), Ostergaard et al. (2011) identified heterozygosity for a 1082G-C transversion in exon 4 of the GATA2 gene, resulting in an arg361-to-leu (R361L) substitution at a conserved residue within the second C(4) zinc finger domain. The mutation was not found in 300 unrelated control chromosomes. Functional analysis in transfected HEK293T cells demonstrated significant reduction in transactivation activity with R361L compared to wildtype. Other features present in this patient included cutaneous warts with malignant transformation to anogenital dysplasia and sensorineural hearing loss.

#	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: Apr 23, 2022

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