Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_032638.5(GATA2):c.413T>C (p.Leu138Pro)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 18, 2020
Accession:
VCV000404085.5
Variation ID:
404085
Description:
single nucleotide variant
Help

NM_032638.5(GATA2):c.413T>C (p.Leu138Pro)

Allele ID
393538
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.3
Genomic location
3: 128486185 (GRCh38) GRCh38 UCSC
3: 128205028 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_295t2:c.413T>C LRG_295p2:p.Leu138Pro
NC_000003.11:g.128205028A>G
NM_032638.4:c.413T>C NP_116027.2:p.Leu138Pro missense
... more HGVS
Protein change
L138P
Other names
-
Canonical SPDI
NC_000003.12:128486184:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Exome Aggregation Consortium (ExAC) 0.00008
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00004
Links
ClinGen: CA2600034
dbSNP: rs746362966
VarSome
Help

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 18, 2020 RCV000473843.6
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001146583.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 18, 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: SCV000541514.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces leucine with proline at codon 138 of the GATA2 protein (p.Leu138Pro). The leucine residue is weakly conserved and there is a … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Lymphedema, primary, with myelodysplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001307333.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)

Functional evidence

Help
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

Help
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 rs746362966...

Help
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