NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys) 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:: RCV001542124.1

Allele description [Variation Report for NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys)]

NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys)

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.1113C>A (p.Asn371Lys)

HGVS:

NC_000003.12:g.128481849G>T
NG_029334.1:g.16339C>A
NM_001145661.2:c.1113C>A
NM_001145662.1:c.1071C>A
NM_032638.5:c.1113C>AMANE SELECT
NP_001139133.1:p.Asn371Lys
NP_001139134.1:p.Asn357Lys
NP_116027.2:p.Asn371Lys
NP_116027.2:p.Asn371Lys
LRG_295t2:c.1113C>A
LRG_295:g.16339C>A
LRG_295p2:p.Asn371Lys
NC_000003.11:g.128200692G>T
NM_032638.4:c.1113C>A

Protein change:

N357K

Links:

dbSNP: rs376003468

NCBI 1000 Genomes Browser:

rs376003468

Molecular consequence:

NM_001145661.2:c.1113C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001145662.1:c.1071C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_032638.5:c.1113C>A - 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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uncharacterized protein K02A2.6-like isoform X1 [Rhipicephalus sanguineus]
uncharacterized protein K02A2.6-like isoform X1 [Rhipicephalus sanguineus]
gi|2273021061|ref|XP_049275231.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001760792	Molecular Pathology Research Laboratory, SA Pathology	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 6, 2021)	unknown	curation	PubMed (4) [See all records that cite these PMIDs] 25326637, 26702063, 32088370, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001760792

Molecular Pathology Research Laboratory, SA Pathology

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 6, 2021)

unknown

curation

PubMed (4)
[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	4	4	not provided	not provided	not provided	curation

Citations

PubMed

Clinical exome sequencing for genetic identification of rare Mendelian disorders.

Lee H, Deignan JL, Dorrani N, Strom SP, Kantarci S, Quintero-Rivera F, Das K, Toy T, Harry B, Yourshaw M, Fox M, Fogel BL, Martinez-Agosto JA, Wong DA, Chang VY, Shieh PB, Palmer CG, Dipple KM, Grody WW, Vilain E, Nelson SF.

JAMA. 2014 Nov 12;312(18):1880-7. doi: 10.1001/jama.2014.14604.

PubMed [citation]

PMID:: 25326637
PMCID:: PMC4278636

Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.

Wlodarski MW, Hirabayashi S, Pastor V, Starý J, Hasle H, Masetti R, Dworzak M, Schmugge M, van den Heuvel-Eibrink M, Ussowicz M, De Moerloose B, Catala A, Smith OP, Sedlacek P, Lankester AC, Zecca M, Bordon V, Matthes-Martin S, Abrahamsson J, Kühl JS, Sykora KW, Albert MH, et al.

Blood. 2016 Mar 17;127(11):1387-97; quiz 1518. doi: 10.1182/blood-2015-09-669937. Epub 2015 Dec 23.

PubMed [citation]

PMID:: 26702063

See all PubMed Citations (4)

Details of each submission

From Molecular Pathology Research Laboratory, SA Pathology, SCV001760792.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	curation	PubMed (4)

Description

PS1, PS4, PM1, PM2, PP3

#	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		4	not provided	4	not provided

Last Updated: Sep 29, 2024

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