NM_032638.5(GATA2):c.1143+8C>T 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:
RCV001541977.1

Allele description [Variation Report for NM_032638.5(GATA2):c.1143+8C>T]

NM_032638.5(GATA2):c.1143+8C>T

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.1143+8C>T
HGVS:
  • NC_000003.12:g.128481811G>A
  • NG_029334.1:g.16377C>T
  • NM_001145661.2:c.1143+8C>T
  • NM_001145662.1:c.1101+8C>T
  • NM_032638.5:c.1143+8C>TMANE SELECT
  • LRG_295t2:c.1143+8C>T
  • LRG_295:g.16377C>T
  • NC_000003.11:g.128200654G>A
  • NM_032638.4:c.1143+8C>T
Links:
dbSNP: rs555534597
NCBI 1000 Genomes Browser:
rs555534597
Molecular consequence:
  • NM_001145661.2:c.1143+8C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001145662.1:c.1101+8C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_032638.5:c.1143+8C>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001760612Molecular 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

Gynecologic manifestations in Emberger syndrome.

YĆ¼ksel H, Zafer E.

Turk J Obstet Gynecol. 2021 Mar 12;18(1):65-67. doi: 10.4274/tjod.galenos.2021.53050.

PubMed [citation]
PMID:
33715335
PMCID:
PMC7962163

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, SCV001760612.1

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

Description

No criteria satisfied

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

Last Updated: Dec 9, 2021

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