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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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000043858OMIM
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

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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.

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

Last Updated: Apr 23, 2022