NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) AND not provided

Germline classification:: Benign/Likely benign (5 submissions)
Last evaluated:: Jun 25, 2021
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:: RCV000059070.17

Allele description [Variation Report for NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn)]

NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn)

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.337G>A (p.Asp113Asn)

HGVS:

NC_000023.11:g.154556314G>A
NG_009896.1:g.19071G>A
NM_001099856.6:c.541G>A
NM_001099857.5:c.337G>AMANE SELECT
NM_001145255.4:c.337G>A
NM_001321396.3:c.337G>A
NM_001321397.3:c.337G>A
NM_001377312.1:c.337G>A
NM_001377313.1:c.337G>A
NM_001377314.1:c.337G>A
NM_001377315.1:c.337G>A
NM_003639.4:c.337G>A
NP_001093326.2:p.Asp181Asn
NP_001093327.1:p.Asp113Asn
NP_001138727.1:p.Asp113Asn
NP_001308325.1:p.Asp113Asn
NP_001308326.1:p.Asp113Asn
NP_001364241.1:p.Asp113Asn
NP_001364242.1:p.Asp113Asn
NP_001364243.1:p.Asp113Asn
NP_001364244.1:p.Asp113Asn
NP_003630.1:p.Asp113Asn
LRG_70t1:c.337G>A
LRG_70:g.19071G>A
NC_000023.10:g.153784529G>A
NM_001099856.3:c.541G>A
NM_001099857.2:c.337G>A
NM_003639.3:c.337G>A
NR_165197.1:n.478G>A
Q9Y6K9:p.Asp113Asn

Protein change:

D113N; ASP113ASN

Links:

UniProtKB: Q9Y6K9#VAR_026493; UniProtKB/Swiss-Prot: VAR_026493; OMIM: 300248.0032; dbSNP: rs179363896

NCBI 1000 Genomes Browser:

rs179363896

Molecular consequence:

NM_001099856.6:c.541G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001099857.5:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001145255.4:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001321396.3:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001321397.3:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377312.1:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377313.1:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377314.1:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001377315.1:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_003639.4:c.337G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_165197.1:n.478G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000090591	UniProtKB/Swiss-Prot	no classification provided	not provided	not provided	not provided	PubMed (1) [See all records that cite this PMID]
SCV000513275	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Mar 10, 2020)	germline	clinical testing	Citation Link,
SCV000885613	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2021)	Likely benign (Jun 25, 2021)	germline	clinical testing	Citation Link,
SCV002034180	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV002035068	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing

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
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	not provided	not provided	not provided	not provided	not provided	1	not provided	literature only

Citations

PubMed

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

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090591.1

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

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

From GeneDx, SCV000513275.4

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

Description

Published functional studies demonstrate no damaging effect (Fusco et al., 2004; Frans et al., 2017); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19903677, 26795245, 28679735, 18350553, 15229184, 22566850, 18179816, 28993958, 25068423, 20529958, 31965418)

#	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		not provided	not provided	not provided	not provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885613.3

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV002034180.1

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

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV002035068.1

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

Last Updated: Oct 26, 2024

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