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NM_032638.5(GATA2):c.1055G>T (p.Cys352Phe) AND multiple conditions

Germline classification:
Likely 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:
RCV001542224.1

Allele description [Variation Report for NM_032638.5(GATA2):c.1055G>T (p.Cys352Phe)]

NM_032638.5(GATA2):c.1055G>T (p.Cys352Phe)

Gene:
GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_032638.5(GATA2):c.1055G>T (p.Cys352Phe)
HGVS:
  • NC_000003.12:g.128481907C>A
  • NG_029334.1:g.16281G>T
  • NM_001145661.2:c.1055G>T
  • NM_001145662.1:c.1018-5G>T
  • NM_032638.5:c.1055G>TMANE SELECT
  • NP_001139133.1:p.Cys352Phe
  • NP_116027.2:p.Cys352Phe
  • LRG_295:g.16281G>T
  • NC_000003.11:g.128200750C>A
Protein change:
C352F
Links:
dbSNP: rs2107668733
NCBI 1000 Genomes Browser:
rs2107668733
Molecular consequence:
  • NM_001145662.1:c.1018-5G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001145661.2:c.1055G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.5:c.1055G>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV001760892Molecular Pathology Research Laboratory, SA Pathology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jul 6, 2021) 		unknowncuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not providednot providednot providedcuration

Citations

PubMed

[Clinical and molecular characteristics of GATA2 related pediatric primary myelodysplastic syndrome].

An WB, Liu C, Wan Y, Chen XY, Guo Y, Chen XJ, Yang WY, Chen YM, Zhang YC, Zhu XF.

Zhonghua Xue Ye Xue Za Zhi. 2019 Jun 14;40(6):477-483. doi: 10.3760/cma.j.issn.0253-2727.2019.06.006. Chinese.

PubMed [citation]
PMID:
31340620
PMCID:
PMC7342394

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, SCV001760892.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (2)

Description

PS4_Supporting, PM1, PM2, PM5, PP3

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

Last Updated: Dec 24, 2023