NM_032638.5(GATA2):c.710del (p.Gly237fs) AND multiple conditions

Germline classification:: 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:: RCV001542210.1

Allele description [Variation Report for NM_032638.5(GATA2):c.710del (p.Gly237fs)]

NM_032638.5(GATA2):c.710del (p.Gly237fs)

Gene:

GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3q21.3

Genomic location:

Preferred name:

NM_032638.5(GATA2):c.710del (p.Gly237fs)

HGVS:

NC_000003.12:g.128485890del
NG_029334.1:g.12300del
NM_001145661.2:c.710del
NM_001145662.1:c.710del
NM_032638.5:c.710delMANE SELECT
NP_001139133.1:p.Gly237fs
NP_001139134.1:p.Gly237fs
NP_116027.2:p.Gly237fs
LRG_295:g.12300del
NC_000003.11:g.128204733del

Protein change:

G237fs

Links:

dbSNP: rs2107672102

NCBI 1000 Genomes Browser:

rs2107672102

Molecular consequence:

NM_001145661.2:c.710del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001145662.1:c.710del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_032638.5:c.710del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001760878	Molecular Pathology Research Laboratory, SA Pathology	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 6, 2021)	unknown	curation	PubMed (3) [See all records that cite these PMIDs] 28747912, 25955867, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001760878

Molecular Pathology Research Laboratory, SA Pathology

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 6, 2021)

unknown

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	unknown	yes	1	1	not provided	not provided	not provided	curation

Citations

PubMed

Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients.

Ruiz-García R, Rodríguez-Vigil C, Marco FM, Gallego-Bustos F, Castro-Panete MJ, Diez-Alonso L, Muñoz-Ruiz C, Ruiz-Contreras J, Paz-Artal E, González-Granado LI, Allende LM.

Front Immunol. 2017;8:802. doi: 10.3389/fimmu.2017.00802.

PubMed [citation]

PMID:: 28747912
PMCID:: PMC5506090

Severe disseminated primary herpes simplex infection as skin manifestation of GATA2 deficiency.

Delgado-Márquez AM, Zarco C, Ruiz R, Simarro A, Vanaclocha F.

J Eur Acad Dermatol Venereol. 2016 Jul;30(7):1248-50. doi: 10.1111/jdv.13183. Epub 2015 May 8. No abstract available.

PubMed [citation]

PMID:: 25955867

See all PubMed Citations (3)

Details of each submission

From Molecular Pathology Research Laboratory, SA Pathology, SCV001760878.1

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

Description

PVS1, PS4_Supporting, PM2

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

Last Updated: Dec 24, 2023

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