NM_032638.5(GATA2):c.1081C>G (p.Arg361Gly) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 6, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001542236.2

Allele description [Variation Report for NM_032638.5(GATA2):c.1081C>G (p.Arg361Gly)]

NM_032638.5(GATA2):c.1081C>G (p.Arg361Gly)

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.1081C>G (p.Arg361Gly)

HGVS:

NC_000003.12:g.128481881G>C
NG_029334.1:g.16307C>G
NM_001145661.2:c.1081C>G
NM_001145662.1:c.1039C>G
NM_032638.5:c.1081C>GMANE SELECT
NP_001139133.1:p.Arg361Gly
NP_001139134.1:p.Arg347Gly
NP_116027.2:p.Arg361Gly
NP_116027.2:p.Arg361Gly
LRG_295t2:c.1081C>G
LRG_295:g.16307C>G
LRG_295p2:p.Arg361Gly
NC_000003.11:g.128200724G>C
NM_032638.4:c.1081C>G

Protein change:

R347G

Links:

dbSNP: rs1426175410

NCBI 1000 Genomes Browser:

rs1426175410

Molecular consequence:

NM_001145661.2:c.1081C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001145662.1:c.1039C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_032638.5:c.1081C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Deafness-lymphedema-leukemia syndrome
Synonyms:: Lymphedema, primary, with myelodysplasia; Emberger syndrome
Identifiers:: MONDO: MONDO:0013540; MedGen: C3279664; Orphanet: 3226; OMIM: 614038

Name:: GATA2 deficiency with susceptibility to MDS/AML
Identifiers:: MONDO: MONDO:0042982; MedGen: CN300066

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001760904	Molecular Pathology Research Laboratory, SA Pathology	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 6, 2021)	germline	curation	PubMed (3) [See all records that cite these PMIDs] 28104920, 29724903, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001760904

Molecular Pathology Research Laboratory, SA Pathology

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 6, 2021)

germline

curation

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	2	not provided	not provided	not provided	curation

Citations

PubMed

Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes.

Guidugli L, Johnson AK, Alkorta-Aranburu G, Nelakuditi V, Arndt K, Churpek JE, Godley LA, Townsley D, Young NS, Fitzpatrick C, Del Gaudio D, Das S, Li Z.

Leukemia. 2017 May;31(5):1226-1229. doi: 10.1038/leu.2017.28. Epub 2017 Jan 20. No abstract available.

PubMed [citation]

PMID:: 28104920
PMCID:: PMC5420790

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients.

Donadieu J, Lamant M, Fieschi C, de Fontbrune FS, Caye A, Ouachee M, Beaupain B, Bustamante J, Poirel HA, Isidor B, Van Den Neste E, Neel A, Nimubona S, Toutain F, Barlogis V, Schleinitz N, Leblanc T, Rohrlich P, Suarez F, Ranta D, Chahla WA, Bruno B, et al.

Haematologica. 2018 Aug;103(8):1278-1287. doi: 10.3324/haematol.2017.181909. Epub 2018 May 3.

PubMed [citation]

PMID:: 29724903
PMCID:: PMC6068047

See all PubMed Citations (3)

Details of each submission

From Molecular Pathology Research Laboratory, SA Pathology, SCV001760904.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	curation	PubMed (3)

Description

PS4_Moderate, PM1, PM2, PM5, PP3

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		2	not provided	2	not provided

Last Updated: Apr 9, 2023

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