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NM_032638.5(GATA2):c.944T>C (p.Leu315Pro) 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:
RCV001542103.1

Allele description [Variation Report for NM_032638.5(GATA2):c.944T>C (p.Leu315Pro)]

NM_032638.5(GATA2):c.944T>C (p.Leu315Pro)

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.944T>C (p.Leu315Pro)
HGVS:
  • NC_000003.12:g.128483933A>G
  • NG_029334.1:g.14255T>C
  • NM_001145661.2:c.944T>C
  • NM_001145662.1:c.944T>C
  • NM_032638.5:c.944T>CMANE SELECT
  • NP_001139133.1:p.Leu315Pro
  • NP_001139134.1:p.Leu315Pro
  • NP_116027.2:p.Leu315Pro
  • LRG_295:g.14255T>C
  • NC_000003.11:g.128202776A>G
Protein change:
L315P
Links:
dbSNP: rs2107670416
NCBI 1000 Genomes Browser:
rs2107670416
Molecular consequence:
  • NM_001145661.2:c.944T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145662.1:c.944T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.5:c.944T>C - 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
SCV001760771Molecular Pathology Research Laboratory, SA Pathology
criteria provided, single submitter

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

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not 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

Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations.

Maciejewski-Duval A, Meuris F, Bignon A, Aknin ML, Balabanian K, Faivre L, Pasquet M, Barlogis V, Fieschi C, Bellanné-Chantelot C, Donadieu J, Schlecht-Louf G, Marin-Esteban V, Bachelerie F.

J Leukoc Biol. 2016 Jun;99(6):1065-76. doi: 10.1189/jlb.5MA0815-388R. Epub 2015 Dec 28.

PubMed [citation]
PMID:
26710799
See all PubMed Citations (3)

Details of each submission

From Molecular Pathology Research Laboratory, SA Pathology, SCV001760771.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (3)

Description

PS4_Supporting, PM1, PM2, PP3

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

Last Updated: Dec 24, 2023