NM_032638.5(GATA2):c.312_313dup (p.Leu105fs) 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:: RCV001542142.1

Allele description [Variation Report for NM_032638.5(GATA2):c.312_313dup (p.Leu105fs)]

NM_032638.5(GATA2):c.312_313dup (p.Leu105fs)

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.312_313dup (p.Leu105fs)

HGVS:

NC_000003.12:g.128486286_128486287dup
NG_029334.1:g.11902_11903dup
NM_001145661.2:c.312_313dup
NM_001145662.1:c.312_313dup
NM_032638.5:c.312_313dupMANE SELECT
NP_001139133.1:p.Leu105fs
NP_001139134.1:p.Leu105fs
NP_116027.2:p.Leu105fs
LRG_295:g.11902_11903dup
NC_000003.11:g.128205129_128205130dup
NM_032638.4:c.312_313dupCC

Note:

ClinGen staff contributed the HGVS expression for this variant.

Protein change:

L105fs

Links:

OMIM: 137295.0009; dbSNP: rs1576749168

NCBI 1000 Genomes Browser:

rs1576749168

Molecular consequence:

NM_001145661.2:c.312_313dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001145662.1:c.312_313dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_032638.5:c.312_313dup - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001760810	Molecular Pathology Research Laboratory, SA Pathology	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jul 6, 2021)	germline	curation	PubMed (3) [See all records that cite these PMIDs] 21892158, 22533337, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001760810

Molecular Pathology Research Laboratory, SA Pathology

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jul 6, 2021)

germline

curation

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	5	1	not provided	not provided	not provided	curation

Citations

PubMed

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).

Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, Dafou D, Kilo T, Smithson S, Lunt P, Murday VA, Hodgson S, Keenan R, Pilz DT, Martinez-Corral I, Makinen T, Mortimer PS, Jeffery S, Trembath RC, Mansour S.

Nat Genet. 2011 Sep 4;43(10):929-31. doi: 10.1038/ng.923.

PubMed [citation]

PMID:: 21892158

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.

Holme H, Hossain U, Kirwan M, Walne A, Vulliamy T, Dokal I.

Br J Haematol. 2012 Jul;158(2):242-248. doi: 10.1111/j.1365-2141.2012.09136.x. Epub 2012 Apr 26.

PubMed [citation]

PMID:: 22533337

See all PubMed Citations (3)

Details of each submission

From Molecular Pathology Research Laboratory, SA Pathology, SCV001760810.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	5	not provided	not provided	curation	PubMed (3)

Description

PVS1, PS4, PM2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		5	not provided	1	not provided

Last Updated: Apr 23, 2022

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