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NM_032638.5(GATA2):c.302del (p.Gly101fs) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 6, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001542139.1

Allele description [Variation Report for NM_032638.5(GATA2):c.302del (p.Gly101fs)]

NM_032638.5(GATA2):c.302del (p.Gly101fs)

Gene:
GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_032638.5(GATA2):c.302del (p.Gly101fs)
HGVS:
  • NC_000003.12:g.128486300del
  • NG_029334.1:g.11892del
  • NM_001145661.2:c.302del
  • NM_001145662.1:c.302del
  • NM_032638.5:c.302delMANE SELECT
  • NP_001139133.1:p.Gly101fs
  • NP_001139134.1:p.Gly101fs
  • NP_116027.2:p.Gly101fs
  • LRG_295:g.11892del
  • NC_000003.11:g.128205143del
Protein change:
G101fs
Links:
dbSNP: rs2107672888
NCBI 1000 Genomes Browser:
rs2107672888
Molecular consequence:
  • NM_001145661.2:c.302del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001145662.1:c.302del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_032638.5:c.302del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Deafness-lymphedema-leukemia syndrome
Synonyms:
Lymphedema, primary, with myelodysplasia; 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001760807Molecular Pathology Research Laboratory, SA Pathology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 6, 2021) 		unknowncuration

PubMed (5)
[See all records that cite these PMIDs]

Help

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

Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

Mace EM, Hsu AP, Monaco-Shawver L, Makedonas G, Rosen JB, Dropulic L, Cohen JI, Frenkel EP, Bagwell JC, Sullivan JL, Biron CA, Spalding C, Zerbe CS, Uzel G, Holland SM, Orange JS.

Blood. 2013 Apr 4;121(14):2669-77. doi: 10.1182/blood-2012-09-453969. Epub 2013 Jan 30.

PubMed [citation]
PMID:
23365458
PMCID:
PMC3617632
See all PubMed Citations (5)

Details of each submission

From Molecular Pathology Research Laboratory, SA Pathology, SCV001760807.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (5)

Description

PVS1, PS4_Supporting, PM2

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

Last Updated: Dec 24, 2023