NM_001145661.2(GATA2):c.1084_1095del (p.Arg362_Asn365del) 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:
RCV001542117.1

Allele description [Variation Report for NM_001145661.2(GATA2):c.1084_1095del (p.Arg362_Asn365del)]

NM_001145661.2(GATA2):c.1084_1095del (p.Arg362_Asn365del)

Gene:
GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_001145661.2(GATA2):c.1084_1095del (p.Arg362_Asn365del)
HGVS:
  • NC_000003.12:g.128481868_128481879del
  • NG_029334.1:g.16310_16321del
  • NM_001145661.2:c.1084_1095del
  • NM_001145662.1:c.1042_1053del
  • NM_032638.4:c.1084_1095del
  • NM_032638.5:c.1084_1095delMANE SELECT
  • NP_001139133.1:p.Arg362_Asn365del
  • NP_001139134.1:p.Arg348_Asn351del
  • NP_116027.2:p.Arg362_Asn365del
  • LRG_295t1:c.1084_1095del
  • LRG_295t2:c.1084_1095del
  • LRG_295:g.16310_16321del
  • LRG_295p2:p.Arg362_Asn365del
  • NC_000003.11:g.128200711_128200722del
  • NM_001145661.1:c.1084_1095del
Note:
NCBI staff reviewed the sequence information reported in PubMed 21670465 Table 1 to determine the location of this allele on the current reference sequence.
Links:
OMIM: 137295.0005; dbSNP: rs869320734
NCBI 1000 Genomes Browser:
rs869320734
Molecular consequence:
  • NM_001145661.2:c.1084_1095del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001145662.1:c.1042_1053del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_032638.4:c.1084_1095del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV001760785Molecular Pathology Research Laboratory,SA Pathologycriteria provided, single submitter
Likely pathogenic
(Jul 6, 2021)
unknowncuration

PubMed (7)
[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 (7)

Details of each submission

From Molecular Pathology Research Laboratory,SA Pathology, SCV001760785.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (7)

Description

PS4_Supporting, PM2, PM4_Strong

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

Last Updated: Jul 27, 2021

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