NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 3, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV003224608.1

Allele description [Variation Report for NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly)]

NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly)

Gene:

IKBKG:inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly)

HGVS:

NC_000023.11:g.154561776C>G
NG_009896.1:g.24533C>G
NM_001099856.6:c.964C>G
NM_001099857.5:c.760C>GMANE SELECT
NM_001145255.4:c.607C>G
NM_001321396.3:c.760C>G
NM_001321397.3:c.757C>G
NM_001377312.1:c.760C>G
NM_001377313.1:c.757C>G
NM_001377314.1:c.604C>G
NM_001377315.1:c.400-1034C>G
NM_003639.4:c.760C>G
NP_001093326.2:p.Arg322Gly
NP_001093327.1:p.Arg254Gly
NP_001138727.1:p.Arg203Gly
NP_001308325.1:p.Arg254Gly
NP_001308326.1:p.Arg253Gly
NP_001364241.1:p.Arg254Gly
NP_001364242.1:p.Arg253Gly
NP_001364243.1:p.Arg202Gly
NP_003630.1:p.Arg254Gly
LRG_70:g.24533C>G
NC_000023.10:g.153789991C>G
NR_165197.1:n.629C>G

Protein change:

R202G

Links:

dbSNP: rs2148383298

NCBI 1000 Genomes Browser:

rs2148383298

Molecular consequence:

NM_001377315.1:c.400-1034C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001099856.6:c.964C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001099857.5:c.760C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001145255.4:c.607C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321396.3:c.760C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001321397.3:c.757C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377312.1:c.760C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377313.1:c.757C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001377314.1:c.604C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003639.4:c.760C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_165197.1:n.629C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Immunodeficiency 33 (IMD33)
Synonyms:: Immunodeficiency without anhidrotic ectodermal dysplasia; X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Identifiers:: MONDO: MONDO:0010386; MedGen: C1970879; Orphanet: 319605; Orphanet: 319612; OMIM: 300636

Name:: Ectodermal dysplasia and immunodeficiency 1 (EDAID1)
Synonyms:: Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema; ECTODERMAL DYSPLASIA AND IMMUNE DEFICIENCY 1; Hyper-IgM immunodeficiency, X-linked, with hypohidrotic ectodermal dysplasia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0020740; MedGen: C1846008; Orphanet: 238468; Orphanet: 98813; OMIM: 300291

Name:: Incontinentia pigmenti syndrome (IP)
Synonyms:: INCONTINENTIA PIGMENTI, TYPE II; Incontinentia pigmenti, familial male-lethal type; Bloch-Sulzberger syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010631; MedGen: C0021171; Orphanet: 464; OMIM: 308300

Name:: Autoinflammatory disease, X-linked
Synonyms:: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED
Identifiers:: MONDO: MONDO:0800129; MedGen: C5676885; OMIM: 301081

Recent activity

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Mus musculus adult male lung cDNA, RIKEN full-length enriched library, clone:120...
Mus musculus adult male lung cDNA, RIKEN full-length enriched library, clone:1200004L23 product:inositol polyphosphate-5-phosphatase, 75 kDa, full insert sequence
gi|12835882|dbj|AK004601.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003920054	Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jun 3, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003920054

Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jun 3, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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 Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago, SCV003920054.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant has been reported in the literature in at least 2 individuals in the hemizygous state with features of immunodeficiency (though features of ectodermal dysplasia were not reportedly present) (Tobi 2003 PMID:14511000, Orange 2005 PMID:15661019, Haverkamp 2014 PMID:24682681). This variant is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. Of note, a different variant at this position (p.Arg254Gln) has been reported at this position in association to disease; however data for this variant is limited. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 17, 2024

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