NM_001145661.2(GATA2):c.761C>T (p.Pro254Leu) AND multiple conditions

Clinical significance:Uncertain significance (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:
RCV001541968.1

Allele description [Variation Report for NM_001145661.2(GATA2):c.761C>T (p.Pro254Leu)]

NM_001145661.2(GATA2):c.761C>T (p.Pro254Leu)

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.761C>T (p.Pro254Leu)
HGVS:
  • NC_000003.12:g.128485837G>A
  • NG_029334.1:g.12351C>T
  • NM_001145661.2:c.761C>T
  • NM_001145662.1:c.761C>T
  • NM_032638.4:c.761C>T
  • NM_032638.5:c.761C>TMANE SELECT
  • NP_001139133.1:p.Pro254Leu
  • NP_001139134.1:p.Pro254Leu
  • NP_116027.2:p.Pro254Leu
  • LRG_295t2:c.761C>T
  • LRG_295:g.12351C>T
  • LRG_295p2:p.Pro254Leu
  • NC_000003.11:g.128204680G>A
  • P23769:p.Pro254Leu
Protein change:
P254L; PRO254LEU
Links:
UniProtKB: P23769#VAR_066405; OMIM: 137295.0003; dbSNP: rs387906630
NCBI 1000 Genomes Browser:
rs387906630
Molecular consequence:
  • NM_001145661.2:c.761C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145662.1:c.761C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.4:c.761C>T - 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
SCV001760603Molecular Pathology Research Laboratory,SA Pathologycriteria provided, single submitter
Uncertain significance
(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

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.

Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, Arthur DC, Gu W, Gould CM, Brewer CC, Cowen EW, Freeman AF, Olivier KN, Uzel G, Zelazny AM, Daub JR, Spalding CD, Claypool RJ, Giri NK, Alter BP, Mace EM, Orange JS, et al.

Blood. 2014 Feb 6;123(6):809-21. doi: 10.1182/blood-2013-07-515528. Epub 2013 Nov 13.

PubMed [citation]
PMID:
24227816
PMCID:
PMC3916876

GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.

Hsu AP, Johnson KD, Falcone EL, Sanalkumar R, Sanchez L, Hickstein DD, Cuellar-Rodriguez J, Lemieux JE, Zerbe CS, Bresnick EH, Holland SM.

Blood. 2013 May 9;121(19):3830-7, S1-7. doi: 10.1182/blood-2012-08-452763. Epub 2013 Mar 15.

PubMed [citation]
PMID:
23502222
PMCID:
PMC3650705
See all PubMed Citations (4)

Details of each submission

From Molecular Pathology Research Laboratory,SA Pathology, SCV001760603.1

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

Description

PS4_Supporting, PM2

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

Last Updated: Jul 27, 2021

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