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NM_032638.5(GATA2):c.1036G>A (p.Gly346Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 12, 2021)
Last evaluated:
Jul 6, 2021
Accession:
VCV000581129.2
Variation ID:
581129
Description:
single nucleotide variant
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NM_032638.5(GATA2):c.1036G>A (p.Gly346Ser)

Allele ID
562384
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.3
Genomic location
3: 128481926 (GRCh38) GRCh38 UCSC
3: 128200769 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.128200769C>T
NC_000003.12:g.128481926C>T
NG_029334.1:g.16262G>A
... more HGVS
Protein change
G346S
Other names
-
Canonical SPDI
NC_000003.12:128481925:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1559985135
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 15, 2018 RCV000704865.1
Uncertain significance 1 criteria provided, single submitter Jul 6, 2021 RCV001541976.1
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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
823 849

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Mar 15, 2018)
criteria provided, single submitter
Method: clinical testing
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Lymphedema, primary, with myelodysplasia
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000833836.1
Submitted: (Aug 29, 2018)
Publications:
PubMed (1)
PubMed: 28492532
Comment:
This sequence change replaces glycine with serine at codon 346 of the GATA2 protein (p.Gly346Ser). The glycine residue is highly conserved and there is a … (more)
Uncertain significance
(Jul 06, 2021)
criteria provided, single submitter
Method: curation
GATA2 deficiency with susceptibility to MDS/AML
Lymphedema, primary, with myelodysplasia
(Autosomal dominant inheritance)
Affected status: yes
Allele origin: unknown
Molecular Pathology Research Laboratory,SA Pathology
Accession: SCV001760611.1
Submitted: (Jul 12, 2021)
Publications:
PubMed (1)
PubMed: 30578959
Comment:
PS4_Supporting, PM2, PP3
Number of individuals with the variant: 1
Clinical Features:
Hematological abnormality (yes) , Immunodeficiency (yes)

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
MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations. McReynolds LJ Leukemia research 2019 PMID: 30578959
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs1559985135...

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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 Dec 09, 2021