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_001145661.2(GATA2):c.761C>T (p.Pro254Leu)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jul 12, 2021)
Last evaluated:
Jul 6, 2021
Accession:
VCV000029710.2
Variation ID:
29710
Description:
single nucleotide variant
Help

NM_001145661.2(GATA2):c.761C>T (p.Pro254Leu)

Allele ID
38665
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q21.3
Genomic location
3: 128485837 (GRCh38) GRCh38 UCSC
3: 128204680 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P23769:p.Pro254Leu
NC_000003.11:g.128204680G>A
NC_000003.12:g.128485837G>A
... more HGVS
Protein change
P254L
Other names
-
Canonical SPDI
NC_000003.12:128485836:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA128576
UniProtKB: P23769#VAR_066405
OMIM: 137295.0003
dbSNP: rs387906630
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 Jul 6, 2021 RCV001541968.1
Pathogenic 1 no assertion criteria provided Sep 8, 2011 RCV000022560.24
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
813 839

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 06, 2021)
criteria provided, single submitter
Method: curation
GATA2 deficiency with susceptibility to MDS/AML
Lymphedema, primary, with myelodysplasia
(Autosomal dominant inheritance)
Allele origin: unknown
Molecular Pathology Research Laboratory,SA Pathology
Accession: SCV001760603.1
Submitted: (Jul 12, 2021)
Evidence details
Publications
PubMed (3)
Comment:
PS4_Supporting, PM2
Pathogenic
(Sep 08, 2011)
no assertion criteria provided
Method: literature only
IMMUNODEFICIENCY 21
Allele origin: germline
OMIM
Accession: SCV000043849.2
Submitted: (Nov 02, 2011)
Evidence details
Publications
PubMed (1)

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
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Spinner MA Blood 2014 PMID: 24227816
GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. Hsu AP Blood 2013 PMID: 23502222
Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Hsu AP Blood 2011 PMID: 21670465

Text-mined citations for rs387906630...

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 Jul 26, 2021