NM_032638.5(GATA2):c.937C>T (p.His313Tyr) 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:
RCV001542223.1

Allele description [Variation Report for NM_032638.5(GATA2):c.937C>T (p.His313Tyr)]

NM_032638.5(GATA2):c.937C>T (p.His313Tyr)

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.937C>T (p.His313Tyr)
HGVS:
  • NC_000003.12:g.128483940G>A
  • NG_029334.1:g.14248C>T
  • NM_001145661.2:c.937C>T
  • NM_001145662.1:c.937C>T
  • NM_032638.5:c.937C>TMANE SELECT
  • NP_001139133.1:p.His313Tyr
  • NP_001139134.1:p.His313Tyr
  • NP_116027.2:p.His313Tyr
  • LRG_295:g.14248C>T
  • NC_000003.11:g.128202783G>A
Protein change:
H313Y
Links:
dbSNP: rs2068661887
NCBI 1000 Genomes Browser:
rs2068661887
Molecular consequence:
  • NM_001145661.2:c.937C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145662.1:c.937C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.5:c.937C>T - 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

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
SCV001760891Molecular Pathology Research Laboratory,SA Pathologycriteria provided, single submitter
Likely pathogenic
(Jul 6, 2021)
germlinecuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providedcuration

Citations

PubMed

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients.

Donadieu J, Lamant M, Fieschi C, de Fontbrune FS, Caye A, Ouachee M, Beaupain B, Bustamante J, Poirel HA, Isidor B, Van Den Neste E, Neel A, Nimubona S, Toutain F, Barlogis V, Schleinitz N, Leblanc T, Rohrlich P, Suarez F, Ranta D, Chahla WA, Bruno B, et al.

Haematologica. 2018 Aug;103(8):1278-1287. doi: 10.3324/haematol.2017.181909. Epub 2018 May 3.

PubMed [citation]
PMID:
29724903
PMCID:
PMC6068047

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, SCV001760891.1

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

Description

PS4_Supporting, PM1, PM2, PP3

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

Last Updated: Dec 9, 2021

Support Center