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NM_032638.5(GATA2):c.724A>G (p.Thr242Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 20, 2020
Accession:
VCV000343138.5
Variation ID:
343138
Description:
single nucleotide variant
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NM_032638.5(GATA2):c.724A>G (p.Thr242Ala)

Allele ID
288595
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.3
Genomic location
3: 128485874 (GRCh38) GRCh38 UCSC
3: 128204717 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_295:g.12314A>G
NC_000003.11:g.128204717T>C
NM_032638.4:c.724A>G NP_116027.2:p.Thr242Ala missense
... more HGVS
Protein change
T242A
Other names
-
Canonical SPDI
NC_000003.12:128485873:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA10614773
dbSNP: rs886057931
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 Jan 12, 2018 RCV000319083.2
Uncertain significance 1 criteria provided, single submitter Apr 20, 2020 RCV000822691.3
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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
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Lymphedema, primary, with myelodysplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000440691.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Apr 20, 2020)
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: SCV000963502.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces threonine with alanine at codon 242 of the GATA2 protein (p.Thr242Ala). The threonine residue is moderately conserved and there is a … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs886057931...

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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