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NM_032638.5(GATA2):c.1083_1085dup (p.Arg362dup)

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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: Aug 3, 2021)
Last evaluated:
Oct 23, 2020
Accession:
VCV000863082.4
Variation ID:
863082
Description:
3bp duplication
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NM_032638.5(GATA2):c.1083_1085dup (p.Arg362dup)

Allele ID
827479
Variant type
Duplication
Variant length
3 bp
Cytogenetic location
3q21.3
Genomic location
3: 128481876-128481877 (GRCh38) GRCh38 UCSC
3: 128200719-128200720 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_295t2:c.1083_1085dup
LRG_295:g.16309_16311dup
NM_032638.4:c.1083_1085dupCCG
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:128481876:CGGCG:CGGCGGCG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs2068634140
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 Dec 12, 2019 RCV001069965.2
Likely pathogenic 1 criteria provided, single submitter Oct 23, 2020 RCV001547703.2
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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
(Dec 12, 2019)
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: SCV001235170.2
Submitted: (Jan 07, 2021)
Comment:
This variant, c.1083_1085dup, results in the insertion of 1 amino acid(s) to the GATA2 protein (p.Arg362dup), but otherwise preserves the integrity of the reading frame. … (more)
Likely pathogenic
(Oct 23, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV001767472.1
Submitted: (Aug 03, 2021)
Comment:
Not observed in large population cohorts (Lek 2016); In-frame insertion of 1 amino acid in a non-repeat region; This variant is associated with the following … (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 rs2068634140...

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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