NM_001145661.2(GATA2):c.1018-1G>T AND multiple conditions

Clinical significance:Likely 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:
RCV001542153.1

Allele description [Variation Report for NM_001145661.2(GATA2):c.1018-1G>T]

NM_001145661.2(GATA2):c.1018-1G>T

Gene:
GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_001145661.2(GATA2):c.1018-1G>T
HGVS:
  • NC_000003.12:g.128481945C>A
  • NG_029334.1:g.16243G>T
  • NM_001145661.2:c.1018-1G>T
  • NM_001145662.1:c.1018-43G>T
  • NM_032638.4:c.1018-1G>T
  • NM_032638.5:c.1018-1G>TMANE SELECT
  • LRG_295t1:c.1018-1G>T
  • LRG_295t2:c.1018-1G>T
  • LRG_295:g.16243G>T
  • NC_000003.11:g.128200788C>A
  • NM_001145661.1:c.1018-1G>T
Nucleotide change:
IVS4AS, G-T, -1
Links:
OMIM: 137295.0008; dbSNP: rs869320668
NCBI 1000 Genomes Browser:
rs869320668
Molecular consequence:
  • NM_001145662.1:c.1018-43G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001145661.2:c.1018-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_032638.4:c.1018-1G>T - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV001760821Molecular Pathology Research Laboratory,SA Pathologycriteria provided, single submitter
Likely pathogenic
(Jul 6, 2021)
unknowncuration

PubMed (4)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not providednot providednot providedcuration

Citations

PubMed

Dendritic cell, monocyte, B and NK lymphoid deficiency defines the lost lineages of a new GATA-2 dependent myelodysplastic syndrome.

Bigley V, Collin M.

Haematologica. 2011 Aug;96(8):1081-3. doi: 10.3324/haematol.2011.048355. No abstract available.

PubMed [citation]
PMID:
21810969
PMCID:
PMC3148897

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, Lakey JH, Rahman T, Wang XN, McGovern N, Pagan S, Cookson S, McDonald D, Chua I, Wallis J, Cant A, Wright M, Keavney B, Chinnery PF, Loughlin J, Hambleton S, Santibanez-Koref M, et al.

Blood. 2011 Sep 8;118(10):2656-8. doi: 10.1182/blood-2011-06-360313. Epub 2011 Jul 15.

PubMed [citation]
PMID:
21765025
PMCID:
PMC5137783
See all PubMed Citations (4)

Details of each submission

From Molecular Pathology Research Laboratory,SA Pathology, SCV001760821.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (4)

Description

PVS1_Strong, PS4_Supporting, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not provided1not provided

Last Updated: Jul 27, 2021

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