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NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 12, 2021)
Last evaluated:
Jul 6, 2021
Accession:
VCV000802001.2
Variation ID:
802001
Description:
single nucleotide variant
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NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg)

Allele ID
790326
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.3
Genomic location
3: 128481917 (GRCh38) GRCh38 UCSC
3: 128200760 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.128200760A>G
NC_000003.12:g.128481917A>G
NM_032638.5:c.1045T>C MANE Select NP_116027.2:p.Cys349Arg missense
... more HGVS
Protein change
C349R
Other names
-
Canonical SPDI
NC_000003.12:128481916:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1576745260
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter May 28, 2019 RCV000987323.1
Pathogenic 1 criteria provided, single submitter Jul 6, 2021 RCV001542202.1
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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
Likely pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Lymphedema, primary, with myelodysplasia
Allele origin: unknown
Mendelics
Accession: SCV001136589.1
Submitted: (Oct 22, 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: de novo
Molecular Pathology Research Laboratory,SA Pathology
Accession: SCV001760870.1
Submitted: (Jul 12, 2021)
Evidence details
Publications
PubMed (2)
Comment:
PS2, PS4_Supporting, PM1, PM2, PM5, PP3

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
Pseudo-Sarcoidosis Revealing MonoMAC Syndrome. Damian L Journal of clinical immunology 2018 PMID: 30280306
Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients. Donadieu J Haematologica 2018 PMID: 29724903

Text-mined citations for rs1576745260...

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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