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NM_032638.5(GATA2):c.1361C>A (p.Pro454His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 28, 2020
Accession:
VCV001045988.1
Variation ID:
1045988
Description:
single nucleotide variant
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NM_032638.5(GATA2):c.1361C>A (p.Pro454His)

Allele ID
1024981
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.3
Genomic location
3: 128481101 (GRCh38) GRCh38 UCSC
3: 128199944 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_295:g.17087C>A
NC_000003.11:g.128199944G>T
NC_000003.12:g.128481101G>T
... more HGVS
Protein change
P440H, P454H
Other names
-
Canonical SPDI
NC_000003.12:128481100:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs2068621583
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 Oct 28, 2020 RCV001350483.1
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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
(Oct 28, 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: SCV001544883.1
Submitted: (Jan 07, 2021)
Comment:
This sequence change replaces proline with histidine at codon 454 of the GATA2 protein (p.Pro454His). The proline 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 rs2068621583...

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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