NM_001145661.2(GATA2):c.526A>C (p.Thr176Pro) AND Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000601326.1

Allele description [Variation Report for NM_001145661.2(GATA2):c.526A>C (p.Thr176Pro)]

NM_001145661.2(GATA2):c.526A>C (p.Thr176Pro)

Gene:
GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_001145661.2(GATA2):c.526A>C (p.Thr176Pro)
HGVS:
  • NC_000003.12:g.128486072T>G
  • NG_029334.1:g.12116A>C
  • NM_001145661.2:c.526A>C
  • NM_001145662.1:c.526A>C
  • NM_032638.4:c.526A>C
  • NP_001139133.1:p.Thr176Pro
  • NP_001139134.1:p.Thr176Pro
  • NP_116027.2:p.Thr176Pro
  • LRG_295t2:c.526A>C
  • LRG_295:g.12116A>C
  • LRG_295p2:p.Thr176Pro
  • NC_000003.11:g.128204915T>G
Protein change:
T176P
Links:
dbSNP: rs1553770978
NCBI 1000 Genomes Browser:
rs1553770978
Molecular consequence:
  • NM_001145661.2:c.526A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001145662.1:c.526A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032638.4:c.526A>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000583983Department of Immunology,University Hospital Southampton NHSFTcriteria provided, single submitter
Likely pathogenicgermlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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

Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.

Rae W, Ward D, Mattocks C, Pengelly RJ, Eren E, Patel SV, Faust SN, Hunt D, Williams AP.

Clin Genet. 2018 Mar;93(3):647-655. doi: 10.1111/cge.13163. Epub 2018 Feb 2.

PubMed [citation]
PMID:
29077208

Details of each submission

From Department of Immunology,University Hospital Southampton NHSFT, SCV000583983.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 23, 2020

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