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NM_032638.5(GATA2):c.1099dup (p.Asp367fs) 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:
RCV001542121.1

Allele description [Variation Report for NM_032638.5(GATA2):c.1099dup (p.Asp367fs)]

NM_032638.5(GATA2):c.1099dup (p.Asp367fs)

Gene:
GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_032638.5(GATA2):c.1099dup (p.Asp367fs)
HGVS:
  • NC_000003.12:g.128481866dup
  • NG_029334.1:g.16325dup
  • NM_001145661.2:c.1099dup
  • NM_001145662.1:c.1057dup
  • NM_032638.5:c.1099dupMANE SELECT
  • NP_001139133.1:p.Asp367fs
  • NP_001139134.1:p.Asp353fs
  • NP_116027.2:p.Asp367fs
  • LRG_295:g.16325dup
  • NC_000003.11:g.128200709dup
Protein change:
D353fs
Links:
dbSNP: rs2107668647
NCBI 1000 Genomes Browser:
rs2107668647
Molecular consequence:
  • NM_001145661.2:c.1099dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001145662.1:c.1057dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_032638.5:c.1099dup - 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
SCV001760789Molecular Pathology Research Laboratory, SA Pathology
criteria provided, single submitter

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes31not 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

Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.

West RR, Hsu AP, Holland SM, Cuellar-Rodriguez J, Hickstein DD.

Haematologica. 2014 Feb;99(2):276-81. doi: 10.3324/haematol.2013.090217. Epub 2013 Sep 27.

PubMed [citation]
PMID:
24077845
PMCID:
PMC3912957
See all PubMed Citations (5)

Details of each submission

From Molecular Pathology Research Laboratory, SA Pathology, SCV001760789.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedcuration PubMed (5)

Description

PVS1, PS4_Moderate, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not provided1not provided

Last Updated: Dec 24, 2023