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NM_032638.5(GATA2):c.279G>A (p.Pro93=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: May 26, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000241722.6
Variation ID:
241722
Description:
single nucleotide variant
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NM_032638.5(GATA2):c.279G>A (p.Pro93=)

Allele ID
239103
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.3
Genomic location
3: 128486319 (GRCh38) GRCh38 UCSC
3: 128205162 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_295:g.11869G>A
LRG_295t1:c.279G>A
LRG_295t2:c.279G>A LRG_295p2:p.Pro93=
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:128486318:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00053
1000 Genomes Project 0.00140
The Genome Aggregation Database (gnomAD) 0.00064
The Genome Aggregation Database (gnomAD) 0.00051
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00062
Links
ClinGen: CA2600046
dbSNP: rs142993548
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Oct 7, 2020 RCV000228480.9
Benign 1 criteria provided, single submitter Dec 6, 2020 RCV001079610.2
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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 Supporting information
Benign
(Dec 06, 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: SCV000291138.7
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Sep 13, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV001132722.1
Submitted: (Aug 15, 2019)
Evidence details
Uncertain significance
(Oct 07, 2020)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories,Mayo Clinic
Accession: SCV001714709.1
Submitted: (May 26, 2021)
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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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 rs142993548...

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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 04, 2021