NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Jul 6, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001542202.1

Allele description [Variation Report for NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg)]

NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg)

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.1045T>C (p.Cys349Arg)
HGVS:
  • NC_000003.12:g.128481917A>G
  • NG_029334.1:g.16271T>C
  • NM_001145661.2:c.1045T>C
  • NM_001145662.1:c.1018-15T>C
  • NM_032638.5:c.1045T>CMANE SELECT
  • NP_001139133.1:p.Cys349Arg
  • NP_116027.2:p.Cys349Arg
  • LRG_295:g.16271T>C
  • NC_000003.11:g.128200760A>G
Protein change:
C349R
Links:
dbSNP: rs1576745260
NCBI 1000 Genomes Browser:
rs1576745260
Molecular consequence:
  • NM_001145662.1:c.1018-15T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001145661.2:c.1045T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.5:c.1045T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lymphedema, primary, with myelodysplasia
Synonyms:
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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001760870Molecular Pathology Research Laboratory,SA Pathologycriteria provided, single submitter
Pathogenic
(Jul 6, 2021)
de novocuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes11not providednot providednot providedcuration

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

Pseudo-Sarcoidosis Revealing MonoMAC Syndrome.

Damian L, SauvĂȘtre G, Marguet F, Verdalle-Cazes M, Battistella M, Boutboul D.

J Clin Immunol. 2018 Oct;38(7):739-741. doi: 10.1007/s10875-018-0551-6. Epub 2018 Oct 2. No abstract available.

PubMed [citation]
PMID:
30280306
See all PubMed Citations (3)

Details of each submission

From Molecular Pathology Research Laboratory,SA Pathology, SCV001760870.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (3)

Description

PS2, PS4_Supporting, PM1, PM2, PM5, PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not provided1not provided

Last Updated: Jul 27, 2021

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