NM_001145661.2(GATA2):c.1017+513_1017+540del 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:
RCV001541945.1

Allele description [Variation Report for NM_001145661.2(GATA2):c.1017+513_1017+540del]

NM_001145661.2(GATA2):c.1017+513_1017+540del

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.1017+513_1017+540del
HGVS:
  • NC_000003.12:g.128483323_128483350del
  • NG_029334.1:g.14841_14868del
  • NM_001145661.2:c.1017+513_1017+540del
  • NM_001145662.1:c.1017+513_1017+540del
  • NM_032638.4:c.1017+513_1017+540del
  • NM_032638.5:c.1017+513_1017+540delMANE SELECT
  • LRG_295t1:c.1017+513_1017+540del
  • LRG_295t2:c.1017+513_1017+540del
  • LRG_295:g.14841_14868del
  • NC_000003.11:g.128202166_128202193del
Note:
NCBI staff reviewed the sequence information reported in PubMed 22996659 to determine the location of this allele on the current reference sequence. Based on the sequencing in Fig. 1B, the deletion can be mapped to intron 5 as NM_001145661.1:c.1017+513_1017+540delGGAGTTTCCTATCCGGACATCTGCAGCC.
Links:
dbVar: nssv3761592; dbVar: nsv1067842; OMIM: 137295.0015; dbSNP: rs1553770655
NCBI 1000 Genomes Browser:
rs1553770655
Molecular consequence:
  • NM_001145661.2:c.1017+513_1017+540del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001145662.1:c.1017+513_1017+540del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_032638.4:c.1017+513_1017+540del - intron variant - [Sequence Ontology: SO:0001627]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001760580Molecular Pathology Research Laboratory,SA Pathologycriteria provided, single submitter
Likely pathogenic
(Jul 6, 2021)
germlinecuration

PubMed (8)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes21not 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 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome.

Hsu AP, Johnson KD, Falcone EL, Sanalkumar R, Sanchez L, Hickstein DD, Cuellar-Rodriguez J, Lemieux JE, Zerbe CS, Bresnick EH, Holland SM.

Blood. 2013 May 9;121(19):3830-7, S1-7. doi: 10.1182/blood-2012-08-452763. Epub 2013 Mar 15.

PubMed [citation]
PMID:
23502222
PMCID:
PMC3650705
See all PubMed Citations (8)

Details of each submission

From Molecular Pathology Research Laboratory,SA Pathology, SCV001760580.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedcuration PubMed (8)

Description

PS3_Supporting, PS4_Moderate, PM1, PM2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not provided1not provided

Last Updated: Jul 27, 2021

Support Center