NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys) AND not provided

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: May 1, 2018
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000059069.30

Allele description [Variation Report for NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys)]

NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys)

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.169G>A (p.Glu57Lys)

Other names:

IKBKG, GLU57LYS (rs148695964)

HGVS:

NC_000023.11:g.154552171G>A
NG_009015.2:g.402C>T
NG_009896.1:g.14928G>A
NM_001099856.6:c.373G>A
NM_001099857.5:c.169G>AMANE SELECT
NM_001145255.4:c.169G>A
NM_001321396.3:c.169G>A
NM_001321397.3:c.169G>A
NM_001377312.1:c.169G>A
NM_001377313.1:c.169G>A
NM_001377314.1:c.169G>A
NM_001377315.1:c.169G>A
NM_003639.4:c.169G>A
NP_001093326.2:p.Glu125Lys
NP_001093327.1:p.Glu57Lys
NP_001138727.1:p.Glu57Lys
NP_001308325.1:p.Glu57Lys
NP_001308326.1:p.Glu57Lys
NP_001364241.1:p.Glu57Lys
NP_001364242.1:p.Glu57Lys
NP_001364243.1:p.Glu57Lys
NP_001364244.1:p.Glu57Lys
NP_003630.1:p.Glu57Lys
LRG_70t1:c.169G>A
LRG_70:g.14928G>A
NC_000023.10:g.153780386G>A
NM_001099857.2:c.169G>A
NM_001099857.5:c.169G>A
NM_003639.3:c.169G>A
NR_165197.1:n.310G>A
Q9Y6K9:p.Glu57Lys

Protein change:

E125K; GLU57LYS

Links:

UniProtKB: Q9Y6K9#VAR_026491; UniProtKB/Swiss-Prot: VAR_026491; OMIM: 300248.0029; dbSNP: rs148695964

NCBI 1000 Genomes Browser:

rs148695964

Molecular consequence:

NM_001099856.6:c.373G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001099857.5:c.169G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001145255.4:c.169G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001321396.3:c.169G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001321397.3:c.169G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377312.1:c.169G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377313.1:c.169G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377314.1:c.169G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377315.1:c.169G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003639.4:c.169G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_165197.1:n.310G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000090590	UniProtKB/Swiss-Prot	no classification provided	not provided	germline	not provided	PubMed (2) [See all records that cite these PMIDs] 11590134, 15229184
SCV000281293	Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Oct 30, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001150543	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (May 1, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000090590

UniProtKB/Swiss-Prot

no classification provided

not provided

germline

not provided

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

SCV000281293

Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Oct 30, 2015)

germline

clinical testing

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

SCV001150543

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(May 1, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	1	not provided	literature only, clinical testing
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.

Aradhya S, Woffendin H, Jakins T, Bardaro T, Esposito T, Smahi A, Shaw C, Levy M, Munnich A, D'Urso M, Lewis RA, Kenwrick S, Nelson DL.

Hum Mol Genet. 2001 Sep 15;10(19):2171-9.

PubMed [citation]

PMID:: 11590134

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.

Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, Israël A, Courtois G, D'Urso M, Ursini MV.

Hum Mol Genet. 2004 Aug 15;13(16):1763-73. Epub 2004 Jun 30.

PubMed [citation]

PMID:: 15229184

See all PubMed Citations (3)

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090590.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	not provided	PubMed (2)

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

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000281293.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	0.002354	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV001150543.27

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

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

Last Updated: Oct 20, 2024

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