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NM_032638.5(GATA2):c.952G>A (p.Ala318Thr) AND multiple conditions

Germline classification:
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:
RCV001542105.1

Allele description [Variation Report for NM_032638.5(GATA2):c.952G>A (p.Ala318Thr)]

NM_032638.5(GATA2):c.952G>A (p.Ala318Thr)

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.952G>A (p.Ala318Thr)
HGVS:
  • NC_000003.12:g.128483925C>T
  • NG_029334.1:g.14263G>A
  • NM_001145661.2:c.952G>A
  • NM_001145662.1:c.952G>A
  • NM_032638.5:c.952G>AMANE SELECT
  • NP_001139133.1:p.Ala318Thr
  • NP_001139134.1:p.Ala318Thr
  • NP_116027.2:p.Ala318Thr
  • LRG_295:g.14263G>A
  • NC_000003.11:g.128202768C>T
Protein change:
A318T
Links:
dbSNP: rs2107670401
NCBI 1000 Genomes Browser:
rs2107670401
Molecular consequence:
  • NM_001145661.2:c.952G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145662.1:c.952G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.5:c.952G>A - 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
SCV001760773Molecular Pathology Research Laboratory, SA Pathology
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 6, 2021) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providedcuration

Citations

PubMed

A case of GATA2-related myelodysplastic syndrome with unbalanced translocation der(1;7)(q10;p10).

Kurata T, Shigemura T, Muramatsu H, Okuno Y, Nakazawa Y.

Pediatr Blood Cancer. 2017 Aug;64(8). doi: 10.1002/pbc.26419. Epub 2017 Jan 9. No abstract available.

PubMed [citation]
PMID:
28066994

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, SCV001760773.1

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

Description

PS3, PS4_Supporting, PM1, PM2, PP3

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

Last Updated: Dec 24, 2023