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NM_006060.6(IKZF1):c.551G>A (p.Arg184Gln) AND Pancytopenia due to IKZF1 mutations

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 25, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000210350.3

Allele description [Variation Report for NM_006060.6(IKZF1):c.551G>A (p.Arg184Gln)]

NM_006060.6(IKZF1):c.551G>A (p.Arg184Gln)

Gene:
IKZF1:IKAROS family zinc finger 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p12.2
Genomic location:
Preferred name:
NM_006060.6(IKZF1):c.551G>A (p.Arg184Gln)
HGVS:
  • NC_000007.14:g.50382669G>A
  • NG_034231.1:g.83587G>A
  • NM_001220765.3:c.551G>A
  • NM_001220767.2:c.290G>A
  • NM_001220768.2:c.551G>A
  • NM_001220770.2:c.290G>A
  • NM_001220771.2:c.421+5876G>A
  • NM_001291837.2:c.551G>A
  • NM_001291838.2:c.290G>A
  • NM_001291839.2:c.290G>A
  • NM_001291840.1:c.161-17249G>A
  • NM_001291841.1:c.161-4676G>A
  • NM_001291842.1:c.161-4676G>A
  • NM_001291843.1:c.161-9060G>A
  • NM_001291844.1:c.161-9060G>A
  • NM_006060.6:c.551G>AMANE SELECT
  • NP_001207694.1:p.Arg184Gln
  • NP_001207696.1:p.Arg97Gln
  • NP_001207697.1:p.Arg184Gln
  • NP_001207699.1:p.Arg97Gln
  • NP_001278766.1:p.Arg184Gln
  • NP_001278767.1:p.Arg97Gln
  • NP_001278768.1:p.Arg97Gln
  • NP_006051.1:p.Arg184Gln
  • LRG_1121t1:c.551G>A
  • LRG_1121:g.83587G>A
  • LRG_1121p1:p.Arg184Gln
  • NC_000007.13:g.50450367G>A
  • Q13422:p.Arg184Gln
Protein change:
R184Q; ARG184GLN
Links:
UniProtKB: Q13422#VAR_076404; OMIM: 603023.0005; dbSNP: rs869312885
NCBI 1000 Genomes Browser:
rs869312885
Molecular consequence:
  • NM_001220771.2:c.421+5876G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001291840.1:c.161-17249G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001291841.1:c.161-4676G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001291842.1:c.161-4676G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001291843.1:c.161-9060G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001291844.1:c.161-9060G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001220765.3:c.551G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001220767.2:c.290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001220768.2:c.551G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001220770.2:c.290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291837.2:c.551G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291838.2:c.290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001291839.2:c.290G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006060.6:c.551G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pancytopenia due to IKZF1 mutations
Synonyms:
Immunodeficiency, common variable, 13
Identifiers:
MONDO: MONDO:0014810; MedGen: C4225173; OMIM: 616873

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000266393OMIM
no assertion criteria provided
Pathogenic
(Aug 25, 2016) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, Maffucci P, Pierce KR, Abbott JK, Voelkerding KV, South ST, Augustine NH, Bush JS, Dolen WK, Wray BB, Itan Y, Cobat A, Sorte HS, Ganesan S, Prader S, Martins TB, Lawrence MG, et al.

N Engl J Med. 2016 Mar 17;374(11):1032-1043. doi: 10.1056/NEJMoa1512234.

PubMed [citation]
PMID:
26981933
PMCID:
PMC4836293

Details of each submission

From OMIM, SCV000266393.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a mother and daughter with common variable immunodeficiency-13 (CVID13; 616873), Kuehn et al. (2016) identified a heterozygous c.551G-A transition (c.551G-A, NM_006060) in the IKZF1 gene, resulting in an arg184-to-gln (R184Q) substitution at a highly conserved residue in zinc finger 3 at a DNA contact site. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the 1000 Genomes Project or ExAC databases.

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

Last Updated: Sep 29, 2024