NM_032638.5(GATA2):c.856G>C (p.Ala286Pro) AND Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

Clinical significance:Uncertain significance (Last evaluated: May 21, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001267764.1

Allele description [Variation Report for NM_032638.5(GATA2):c.856G>C (p.Ala286Pro)]

NM_032638.5(GATA2):c.856G>C (p.Ala286Pro)

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.856G>C (p.Ala286Pro)
HGVS:
  • NC_000003.12:g.128485742C>G
  • NG_029334.1:g.12446G>C
  • NM_001145661.2:c.856G>C
  • NM_001145662.1:c.856G>C
  • NM_032638.5:c.856G>CMANE SELECT
  • NP_001139133.1:p.Ala286Pro
  • NP_001139134.1:p.Ala286Pro
  • NP_116027.2:p.Ala286Pro
  • LRG_295t2:c.856G>C
  • LRG_295:g.12446G>C
  • NC_000003.11:g.128204585C>G
  • NM_032638.4:c.856G>C
Protein change:
A286P
Molecular consequence:
  • NM_001145661.2:c.856G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145662.1:c.856G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.5:c.856G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency (IMD21)
Synonyms:
MONOCYTOPENIA AND MYCOBACTERIAL INFECTION SYNDROME; MONOCYTOPENIA WITH SUSCEPTIBILITY TO MYCOBACTERIAL, FUNGAL, AND PAPILLOMAVIRUS INFECTIONS AND MYELODYSPLASIA; COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0013607; MedGen: C3280030; Orphanet: 228423; OMIM: 614172

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001424080UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslinino assertion criteria providedUncertain significance
(May 21, 2020)
germlineclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini, SCV001424080.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jul 24, 2021

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