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NM_032638.5(GATA2):c.1065_1067del (p.Thr358del) 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:
RCV001542228.1

Allele description [Variation Report for NM_032638.5(GATA2):c.1065_1067del (p.Thr358del)]

NM_032638.5(GATA2):c.1065_1067del (p.Thr358del)

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.1065_1067del (p.Thr358del)
HGVS:
  • NC_000003.12:g.128481897_128481899del
  • NG_029334.1:g.16291_16293del
  • NM_001145661.2:c.1065_1067del
  • NM_001145662.1:c.1023_1025del
  • NM_032638.5:c.1065_1067delMANE SELECT
  • NP_001139133.1:p.Thr358del
  • NP_001139134.1:p.Thr344del
  • NP_116027.2:p.Thr358del
  • LRG_295:g.16291_16293del
  • NC_000003.11:g.128200740_128200742del
  • NM_032638.4:c.1065_1067delAAC
Note:
ClinGen staff contributed the HGVS expression for this variant.
Protein change:
T344del
Links:
OMIM: 137295.0014; dbSNP: rs1576745225
NCBI 1000 Genomes Browser:
rs1576745225
Molecular consequence:
  • NM_001145661.2:c.1065_1067del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001145662.1:c.1023_1025del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_032638.5:c.1065_1067del - inframe_deletion - [Sequence Ontology: SO:0001822]

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001760896Molecular Pathology Research Laboratory, SA Pathology
criteria provided, single submitter

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

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes21not providednot providednot providedcuration

Citations

PubMed

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC, Babic M, Lin M, Carmagnac A, Lee YK, Kok CH, Gagliardi L, Friend KL, Ekert PG, Butcher CM, Brown AL, Lewis ID, To LB, Timms AE, Storek J, Moore S, Altree M, et al.

Nat Genet. 2011 Sep 4;43(10):1012-7. doi: 10.1038/ng.913.

PubMed [citation]
PMID:
21892162
PMCID:
PMC3184204

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Molecular Pathology Research Laboratory, SA Pathology, SCV001760896.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedcuration PubMed (2)

Description

PS3, PS4_Moderate, PM2, PM4

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

Last Updated: Apr 23, 2022