NM_032638.5(GATA2):c.312_313dup (p.Leu105fs) 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:: RCV000022569.28

Allele description [Variation Report for NM_032638.5(GATA2):c.312_313dup (p.Leu105fs)]

NM_032638.5(GATA2):c.312_313dup (p.Leu105fs)

Gene:

GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

3q21.3

Genomic location:

Preferred name:

NM_032638.5(GATA2):c.312_313dup (p.Leu105fs)

HGVS:

NC_000003.12:g.128486286_128486287dup
NG_029334.1:g.11902_11903dup
NM_001145661.2:c.312_313dup
NM_001145662.1:c.312_313dup
NM_032638.5:c.312_313dupMANE SELECT
NP_001139133.1:p.Leu105fs
NP_001139134.1:p.Leu105fs
NP_116027.2:p.Leu105fs
LRG_295:g.11902_11903dup
NC_000003.11:g.128205129_128205130dup
NM_032638.4:c.312_313dupCC

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

L105fs

Links:

OMIM: 137295.0009; dbSNP: rs1576749168

NCBI 1000 Genomes Browser:

rs1576749168

Molecular consequence:

NM_001145661.2:c.312_313dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001145662.1:c.312_313dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_032638.5:c.312_313dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

Clear Turn Off Turn On

aquaporin-5 [Ovis aries]
aquaporin-5 [Ovis aries]
gi|57164303|ref|NP_001009273.1|

Protein
Homo sapiens minichromosome maintenance complex component 8, mRNA (cDNA clone MG...
Homo sapiens minichromosome maintenance complex component 8, mRNA (cDNA clone MGC:99550 IMAGE:4841271), complete cds
gi|51593772|gb|BC080656.1|

Nucleotide
Homo sapiens thrombospondin 3 (THBS3), RefSeqGene on chromosome 1
Homo sapiens thrombospondin 3 (THBS3), RefSeqGene on chromosome 1
gi|1026346701|ref|NG_047083.1|

Nucleotide
rplN [Pantoea dispersa]
rplN [Pantoea dispersa]
Gene ID:67450258

Gene
rplN [Pantoea anthophila]
rplN [Pantoea anthophila]
Gene ID:93531706

Gene

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000043858	OMIM	no assertion criteria provided	Pathogenic (Sep 4, 2011)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 20803646, 21892158

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000043858

OMIM

no assertion criteria provided

Pathogenic
(Sep 4, 2011)

germline

literature only

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

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

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

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, SCV000043858.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In 5 affected members over 2 generations of a family with primary lymphedema and myelodysplasia (614038), including 'patient 1' reported by Mansour et al. (2010), Ostergaard et al. (2011) identified heterozygosity for a 2-bp insertion (310insCC) in exon 2 of the GATA2 gene, predicted to cause a frameshift and premature termination. The mutation was not found in unaffected family members or in 300 unrelated control chromosomes.

#	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

ClinVar

Relating variation to medicine