NM_001145661.2(GATA2):c.243delinsGC (p.Gly82fs) 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:
RCV001542136.1

Allele description [Variation Report for NM_001145661.2(GATA2):c.243delinsGC (p.Gly82fs)]

NM_001145661.2(GATA2):c.243delinsGC (p.Gly82fs)

Gene:
GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_001145661.2(GATA2):c.243delinsGC (p.Gly82fs)
HGVS:
  • NC_000003.12:g.128486355delinsGC
  • NG_029334.1:g.11833delinsGC
  • NM_001145661.2:c.243delinsGC
  • NM_001145662.1:c.243delinsGC
  • NM_032638.4:c.243delinsGC
  • NM_032638.5:c.243delinsGCMANE SELECT
  • NP_001139133.1:p.Gly82fs
  • NP_001139134.1:p.Gly82fs
  • NP_116027.2:p.Gly82fs
  • LRG_295t1:c.243delinsGC
  • LRG_295t2:c.243delinsGC
  • LRG_295:g.11833delinsGC
  • LRG_295p2:p.Gly82fs
  • NC_000003.11:g.128205198delinsGC
Protein change:
G82fs
Links:
OMIM: 137295.0006; dbSNP: rs869320735
NCBI 1000 Genomes Browser:
rs869320735
Molecular consequence:
  • NM_001145661.2:c.243delinsGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001145662.1:c.243delinsGC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_032638.4:c.243delinsGC - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV001760804Molecular Pathology Research Laboratory,SA Pathologycriteria provided, single submitter
Pathogenic
(Jul 6, 2021)
unknowncuration

PubMed (9)
[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 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia.

Ganapathi KA, Townsley DM, Hsu AP, Arthur DC, Zerbe CS, Cuellar-Rodriguez J, Hickstein DD, Rosenzweig SD, Braylan RC, Young NS, Holland SM, Calvo KR.

Blood. 2015 Jan 1;125(1):56-70. doi: 10.1182/blood-2014-06-580340. Epub 2014 Oct 30.

PubMed [citation]
PMID:
25359990
PMCID:
PMC4281830
See all PubMed Citations (9)

Details of each submission

From Molecular Pathology Research Laboratory,SA Pathology, SCV001760804.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (9)

Description

PVS1, PS4_Supporting, PM2

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

Last Updated: Jul 27, 2021

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