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NM_032638.5(GATA2):c.661A>C (p.Met221Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 25, 2020
Accession:
VCV000577317.5
Variation ID:
577317
Description:
single nucleotide variant
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NM_032638.5(GATA2):c.661A>C (p.Met221Leu)

Allele ID
561194
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.3
Genomic location
3: 128485937 (GRCh38) GRCh38 UCSC
3: 128204780 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_295:g.12251A>C
LRG_295t2:c.661A>C LRG_295p2:p.Met221Leu
NC_000003.11:g.128204780T>G
... more HGVS
Protein change
M221L
Other names
-
Canonical SPDI
NC_000003.12:128485936:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs1252930387
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 25, 2020 RCV000700032.4
Uncertain significance 1 criteria provided, single submitter May 28, 2019 RCV000987326.1
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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
(Mar 25, 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: SCV000828768.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces methionine with leucine at codon 221 of the GATA2 protein (p.Met221Leu). The methionine residue is moderately conserved and there is a … (more)
Uncertain significance
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Lymphedema, primary, with myelodysplasia
Allele origin: unknown
Mendelics
Accession: SCV001136592.1
Submitted: (Oct 22, 2019)
Evidence details

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 rs1252930387...

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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