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

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 12, 2021)
Last evaluated:
Jul 6, 2021
Accession:
VCV000029719.4
Variation ID:
29719
Description:
single nucleotide variant
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NM_001145661.2(GATA2):c.1009C>T (p.Arg337Ter)

Allele ID
38674
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.3
Genomic location
3: 128483868 (GRCh38) GRCh38 UCSC
3: 128202711 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.128202711G>A
NC_000003.12:g.128483868G>A
NM_032638.5:c.1009C>T MANE Select
... more HGVS
Protein change
R337*
Other names
-
Canonical SPDI
NC_000003.12:128483867:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs387906632
ClinGen: CA128584
OMIM: 137295.0011
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Dec 15, 2018 RCV000812052.1
Pathogenic 1 criteria provided, single submitter Sep 13, 2017 RCV000984812.1
Pathogenic 1 criteria provided, single submitter Jul 6, 2021 RCV001542112.1
Pathogenic 1 no assertion criteria provided Sep 4, 2011 RCV000022571.27
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GATA2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
813 839

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 13, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV001132693.1
Submitted: (Aug 15, 2019)
Evidence details
Pathogenic
(Jul 06, 2021)
criteria provided, single submitter
Method: curation
GATA2 deficiency with susceptibility to MDS/AML
Lymphedema, primary, with myelodysplasia
(Autosomal dominant inheritance)
Allele origin: germline
Molecular Pathology Research Laboratory,SA Pathology
Accession: SCV001760780.1
Submitted: (Jul 12, 2021)
Evidence details
Publications
PubMed (10)
Comment:
PVS1, PS4, PM2
Pathogenic
(Dec 15, 2018)
criteria provided, single submitter
Method: clinical testing
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Lymphedema, primary, with myelodysplasia
Allele origin: germline
Invitae
Accession: SCV000952354.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change creates a premature translational stop signal (p.Arg337*) in the GATA2 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Sep 04, 2011)
no assertion criteria provided
Method: literature only
LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA
Allele origin: germline
OMIM
Accession: SCV000043860.1
Submitted: (Nov 02, 2011)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Diagnosis of GATA2 Deficiency in a Young Woman with Hemophagocytic Lymphohistiocytosis Triggered by Acute Systemic Cytomegalovirus Infection. Burak N The American journal of case reports 2021 PMID: 33684095
Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients. Ruiz-García R Frontiers in immunology 2017 PMID: 28747912
Multiple Opportunistic Infections in a Woman with GATA2 Mutation. Vila A International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases 2017 PMID: 27894982
Successful umbilical cord blood hematopoietic stem cell transplantation in pediatric patients with MDS/AML associated with underlying GATA2 mutations: two case reports and review of literature. Mallhi K Pediatric transplantation 2016 PMID: 27416790
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Wlodarski MW Blood 2016 PMID: 26702063
GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia. Ganapathi KA Blood 2015 PMID: 25359990
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Spinner MA Blood 2014 PMID: 24227816
Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation. West RR Haematologica 2014 PMID: 24077845
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. Hsu AP Blood 2013 PMID: 23502222
Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Ostergaard P Nature genetics 2011 PMID: 21892158

Text-mined citations for rs387906632...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 26, 2021