NM_032638.5(GATA2):c.971del (p.Lys324fs) AND Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency

Clinical significance:Pathogenic (Last evaluated: Sep 21, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001335241.1

Allele description [Variation Report for NM_032638.5(GATA2):c.971del (p.Lys324fs)]

NM_032638.5(GATA2):c.971del (p.Lys324fs)

Gene:
GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
NM_032638.5(GATA2):c.971del (p.Lys324fs)
HGVS:
  • NC_000003.12:g.128483907del
  • NG_029334.1:g.14282del
  • NM_001145661.2:c.971del
  • NM_001145662.1:c.971del
  • NM_032638.5:c.971delMANE SELECT
  • NP_001139133.1:p.Lys324fs
  • NP_001139134.1:p.Lys324fs
  • NP_116027.2:p.Lys324fs
  • LRG_295:g.14282del
  • NC_000003.11:g.128202750del
  • NM_032638.4:c.971delA
Protein change:
K324fs
Links:
dbSNP: rs1576746862
NCBI 1000 Genomes Browser:
rs1576746862
Molecular consequence:
  • NM_001145661.2:c.971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001145662.1:c.971del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_032638.5:c.971del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001528343Baylor Geneticscriteria provided, single submitter
Pathogenic
(Sep 21, 2018)
paternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyesnot 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

Details of each submission

From Baylor Genetics, SCV001528343.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 24, 2021

Support Center