NM_032638.5(GATA2):c.1036G>A (p.Gly346Ser) AND multiple conditions

Clinical significance:Uncertain significance (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:
RCV001541976.1

Allele description [Variation Report for NM_032638.5(GATA2):c.1036G>A (p.Gly346Ser)]

NM_032638.5(GATA2):c.1036G>A (p.Gly346Ser)

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.1036G>A (p.Gly346Ser)
HGVS:
  • NC_000003.12:g.128481926C>T
  • NG_029334.1:g.16262G>A
  • NM_001145661.2:c.1036G>A
  • NM_001145662.1:c.1018-24G>A
  • NM_032638.5:c.1036G>AMANE SELECT
  • NP_001139133.1:p.Gly346Ser
  • NP_116027.2:p.Gly346Ser
  • NP_116027.2:p.Gly346Ser
  • LRG_295t2:c.1036G>A
  • LRG_295:g.16262G>A
  • LRG_295p2:p.Gly346Ser
  • NC_000003.11:g.128200769C>T
  • NM_032638.4:c.1036G>A
Protein change:
G346S
Links:
dbSNP: rs1559985135
NCBI 1000 Genomes Browser:
rs1559985135
Molecular consequence:
  • NM_001145662.1:c.1018-24G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001145661.2:c.1036G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.5:c.1036G>A - 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
SCV001760611Molecular Pathology Research Laboratory,SA Pathologycriteria provided, single submitter
Uncertain significance
(Jul 6, 2021)
unknowncuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not providednot providednot providedcuration

Citations

PubMed

MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations.

McReynolds LJ, Yang Y, Yuen Wong H, Tang J, Zhang Y, Mulé MP, Daub J, Palmer C, Foruraghi L, Liu Q, Zhu J, Wang W, West RR, Yohe ME, Hsu AP, Hickstein DD, Townsley DM, Holland SM, Calvo KR, Hourigan CS.

Leuk Res. 2019 Jan;76:70-75. doi: 10.1016/j.leukres.2018.11.013. Epub 2018 Dec 4.

PubMed [citation]
PMID:
30578959
PMCID:
PMC6340496

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, SCV001760611.1

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

Description

PS4_Supporting, PM2, PP3

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

Last Updated: Dec 9, 2021

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