NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter) AND Lymphedema, primary, with myelodysplasia

Clinical significance:Pathogenic (Last evaluated: Sep 4, 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:
RCV000022571.27

Allele description [Variation Report for NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter)]

NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter)

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.1009C>T (p.Arg337Ter)
HGVS:
  • NC_000003.12:g.128483868G>A
  • NG_029334.1:g.14320C>T
  • NM_001145661.2:c.1009C>T
  • NM_001145662.1:c.1009C>T
  • NM_032638.4:c.1009C>T
  • NM_032638.5:c.1009C>TMANE SELECT
  • NP_001139133.1:p.Arg337Ter
  • NP_001139134.1:p.Arg337Ter
  • NP_116027.2:p.Arg337Ter
  • LRG_295t1:c.1009C>T
  • LRG_295t2:c.1009C>T
  • LRG_295:g.14320C>T
  • LRG_295p2:p.Arg337Ter
  • NC_000003.11:g.128202711G>A
  • NM_001145661.1:c.1009C>T
Protein change:
R337*; ARG337TER
Links:
OMIM: 137295.0011; dbSNP: rs387906632
NCBI 1000 Genomes Browser:
rs387906632
Molecular consequence:
  • NM_001145661.2:c.1009C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001145662.1:c.1009C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_032638.4:c.1009C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000043860OMIMno assertion criteria providedPathogenic
(Sep 4, 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 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, SCV000043860.1

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

Description

In a Chinese female patient with bilateral lower extremity and genital edema and acute myeloid leukemia (Emberger syndrome; 614038), Ostergaard et al. (2011) identified heterozygosity for a 1009C-T transition in exon 3 of the GATA3 gene, resulting in an arg337-to-ter (R337X) substitution. The mutation was not found in 300 unrelated control chromosomes.

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

Last Updated: Jul 26, 2021

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