NM_032638.5(GATA2):c.1069A>G (p.Thr357Ala) 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:
RCV001542231.1

Allele description [Variation Report for NM_032638.5(GATA2):c.1069A>G (p.Thr357Ala)]

NM_032638.5(GATA2):c.1069A>G (p.Thr357Ala)

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.1069A>G (p.Thr357Ala)
HGVS:
  • NC_000003.12:g.128481893T>C
  • NG_029334.1:g.16295A>G
  • NM_001145661.2:c.1069A>G
  • NM_001145662.1:c.1027A>G
  • NM_032638.5:c.1069A>GMANE SELECT
  • NP_001139133.1:p.Thr357Ala
  • NP_001139134.1:p.Thr343Ala
  • NP_116027.2:p.Thr357Ala
  • LRG_295:g.16295A>G
  • NC_000003.11:g.128200736T>C
Protein change:
T343A
Molecular consequence:
  • NM_001145661.2:c.1069A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145662.1:c.1027A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.5:c.1069A>G - missense variant - [Sequence Ontology: SO:0001583]

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001760899Molecular Pathology Research Laboratory,SA Pathologycriteria provided, single submitter
Likely pathogenic
(Jul 6, 2021)
unknowncuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes21not providednot providednot providedcuration

Citations

PubMed

Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.

Wlodarski MW, Hirabayashi S, Pastor V, Starý J, Hasle H, Masetti R, Dworzak M, Schmugge M, van den Heuvel-Eibrink M, Ussowicz M, De Moerloose B, Catala A, Smith OP, Sedlacek P, Lankester AC, Zecca M, Bordon V, Matthes-Martin S, Abrahamsson J, Kühl JS, Sykora KW, Albert MH, et al.

Blood. 2016 Mar 17;127(11):1387-97; quiz 1518. doi: 10.1182/blood-2015-09-669937. Epub 2015 Dec 23.

PubMed [citation]
PMID:
26702063

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, SCV001760899.1

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

Description

PS4_Moderate, PM1, PM2, PM5, PP3

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

Last Updated: Dec 9, 2021

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