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NM_032638.5(GATA2):c.1121G>A (p.Gly374Asp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: May 26, 2021)
Last evaluated:
Jul 7, 2019
Accession:
VCV000574759.2
Variation ID:
574759
Description:
single nucleotide variant
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NM_032638.5(GATA2):c.1121G>A (p.Gly374Asp)

Allele ID
559337
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.3
Genomic location
3: 128481841 (GRCh38) GRCh38 UCSC
3: 128200684 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_295t1:c.1121G>A
LRG_295:g.16347G>A
LRG_295t2:c.1121G>A LRG_295p2:p.Gly374Asp
... more HGVS
Protein change
G374D, G360D
Other names
-
Canonical SPDI
NC_000003.12:128481840:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1559985057
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 Oct 24, 2017 RCV000696775.1
Likely pathogenic 1 criteria provided, single submitter Jul 7, 2019 RCV001508504.1
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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 Supporting information
Uncertain significance
(Oct 24, 2017)
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: SCV000825352.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glycine with aspartic acid at codon 374 of the GATA2 protein (p.Gly374Asp). The glycine residue is highly conserved and there is … (more)
Likely pathogenic
(Jul 07, 2019)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001714706.1
Submitted: (May 26, 2021)
Evidence details
Comment:
PM1, PM2, PP3. PP4

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
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 rs1559985057...

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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 Nov 27, 2021