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NM_032638.5(GATA2):c.206_207delinsTT (p.Arg69Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
May 25, 2020
Accession:
VCV001021072.1
Variation ID:
1021072
Description:
2bp indel
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NM_032638.5(GATA2):c.206_207delinsTT (p.Arg69Leu)

Allele ID
1004491
Variant type
Indel
Variant length
2 bp
Cytogenetic location
3q21.3
Genomic location
3: 128486825-128486826 (GRCh38) GRCh38 UCSC
3: 128205668-128205669 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_295:g.11362_11363delinsTT
NC_000003.11:g.128205668_128205669delinsAA
NC_000003.12:g.128486825_128486826delinsAA
... more HGVS
Protein change
R69L
Other names
-
Canonical SPDI
NC_000003.12:128486824:GC:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs2068706969
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 May 25, 2020 RCV001320763.1
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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
(May 25, 2020)
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: SCV001511561.1
Submitted: (Jan 07, 2021)
Comment:
This sequence change replaces arginine with leucine at codon 69 of the GATA2 protein (p.Arg69Leu). The arginine residue is highly 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 rs2068706969...

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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