NM_032638.5(GATA2):c.423C>A (p.Tyr141Ter) 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:: RCV001542181.1

Allele description [Variation Report for NM_032638.5(GATA2):c.423C>A (p.Tyr141Ter)]

NM_032638.5(GATA2):c.423C>A (p.Tyr141Ter)

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.423C>A (p.Tyr141Ter)

HGVS:

NC_000003.12:g.128486175G>T
NG_029334.1:g.12013C>A
NM_001145661.2:c.423C>A
NM_001145662.1:c.423C>A
NM_032638.5:c.423C>AMANE SELECT
NP_001139133.1:p.Tyr141Ter
NP_001139134.1:p.Tyr141Ter
NP_116027.2:p.Tyr141Ter
LRG_295:g.12013C>A
NC_000003.11:g.128205018G>T

Protein change:

Y141*

Links:

dbSNP: rs781744898

NCBI 1000 Genomes Browser:

rs781744898

Molecular consequence:

NM_001145661.2:c.423C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001145662.1:c.423C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_032638.5:c.423C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001760849	Molecular Pathology Research Laboratory, SA Pathology	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 6, 2021)	germline	curation	PubMed (3) [See all records that cite these PMIDs] 29724903, 29146883, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001760849

Molecular Pathology Research Laboratory, SA Pathology

criteria provided, single submitter

(ACMG Guidelines, 2015)

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

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

A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.

Bluteau O, Sebert M, Leblanc T, Peffault de Latour R, Quentin S, Lainey E, Hernandez L, Dalle JH, Sicre de Fontbrune F, Lengline E, Itzykson R, Clappier E, Boissel N, Vasquez N, Da Costa M, Masliah-Planchon J, Cuccuini W, Raimbault A, De Jaegere L, Adès L, Fenaux P, Maury S, et al.

Blood. 2018 Feb 15;131(7):717-732. doi: 10.1182/blood-2017-09-806489. Epub 2017 Nov 16.

PubMed [citation]

PMID:: 29146883

See all PubMed Citations (3)

Details of each submission

From Molecular Pathology Research Laboratory, SA Pathology, SCV001760849.1

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

Description

PVS1, PS4_Moderate, PM2

#	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: Dec 24, 2023

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