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NM_001145661.2(GATA2):c.243delinsGC (p.Gly82fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 12, 2021)
Last evaluated:
Jul 6, 2021
Accession:
VCV000029714.2
Variation ID:
29714
Description:
2bp indel
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NM_001145661.2(GATA2):c.243delinsGC (p.Gly82fs)

Allele ID
38669
Variant type
Indel
Variant length
2 bp
Cytogenetic location
3q21.3
Genomic location
3: 128486355 (GRCh38) GRCh38 UCSC
3: 128205198 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.128205198delinsGC
NC_000003.12:g.128486355delinsGC
NM_032638.5:c.243delinsGC MANE Select
... more HGVS
Protein change
G82fs
Other names
-
Canonical SPDI
NC_000003.12:128486354:T:GC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA358694
OMIM: 137295.0006
dbSNP: rs869320735
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 Jul 6, 2021 RCV001542136.1
Pathogenic 1 no assertion criteria provided Sep 8, 2011 RCV000022566.28
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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
(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: unknown
Molecular Pathology Research Laboratory,SA Pathology
Accession: SCV001760804.1
Submitted: (Jul 12, 2021)
Evidence details
Publications
PubMed (8)
Comment:
PVS1, PS4_Supporting, PM2
Pathogenic
(Sep 08, 2011)
no assertion criteria provided
Method: literature only
IMMUNODEFICIENCY 21
Allele origin: germline
OMIM
Accession: SCV000043855.2
Submitted: (Nov 02, 2011)
Evidence details
Publications
PubMed (2)

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
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
Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency. Cuellar-Rodriguez J Blood 2011 PMID: 21816832
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Hsu AP Blood 2011 PMID: 21670465
Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Vinh DC Blood 2010 PMID: 20040766
A family inheriting different subtypes of acute myelogenous leukemia. Horwitz M American journal of hematology 1996 PMID: 8701948

Text-mined citations for rs869320735...

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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