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NM_032638.5(GATA2):c.802G>A (p.Gly268Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 27, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003151528.2

Allele description [Variation Report for NM_032638.5(GATA2):c.802G>A (p.Gly268Arg)]

NM_032638.5(GATA2):c.802G>A (p.Gly268Arg)

Gene:
GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_032638.5(GATA2):c.802G>A (p.Gly268Arg)
HGVS:
  • NC_000003.12:g.128485796C>T
  • NG_029334.1:g.12392G>A
  • NM_001145661.2:c.802G>A
  • NM_001145662.1:c.802G>A
  • NM_032638.5:c.802G>AMANE SELECT
  • NP_001139133.1:p.Gly268Arg
  • NP_001139133.1:p.Gly268Arg
  • NP_001139134.1:p.Gly268Arg
  • NP_116027.2:p.Gly268Arg
  • NP_116027.2:p.Gly268Arg
  • LRG_295t1:c.802G>A
  • LRG_295t2:c.802G>A
  • LRG_295:g.12392G>A
  • LRG_295p1:p.Gly268Arg
  • LRG_295p2:p.Gly268Arg
  • NC_000003.11:g.128204639C>T
  • NM_001145661.1:c.802G>A
  • NM_032638.4:c.802G>A
Protein change:
G268R
Molecular consequence:
  • NM_001145661.2:c.802G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145662.1:c.802G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.5:c.802G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003839553Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Uncertain significance
(Jul 27, 2022) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV003839553.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

DNA sequence analysis of the GATA2 gene demonstrated a sequence change, c.802G>A, in exon 3 that results in an amino acid change, p.Gly268Arg. This sequence change does not appear to have been previously described in individuals with GATA2-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.013% in the African subpopulation (dbSNP rs764747992. The p.Gly268Arg change affects a highly conserved amino acid residue located in a domain of the GATA2 protein that is known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Gly268Arg substitution. Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Gly268Arg change remains unknown at this time. Germline pathogenic variants in GATA2 have been described in association with immunodeficiency [OMIM# 614172] and Emberger syndrome [OMIM# 614038]. Clinical phenotypes include immunodeficiency with marked susceptibility to EBV, HPV, and other viruses, atypical mycobacteria, and fungal infections. Transformation to myelodysplastic syndrome/acute myeloid leukemia (MDS/AML) is usually preceded by a period of bone marrow failure. Monosomy 7 and/or somatic ASXL1 mutations are often present at transformation (PMID: 30047422).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024