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NM_001099857.5(IKBKG):c.502C>T (p.Gln168Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 12, 2017
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:
RCV000442216.1

Allele description [Variation Report for NM_001099857.5(IKBKG):c.502C>T (p.Gln168Ter)]

NM_001099857.5(IKBKG):c.502C>T (p.Gln168Ter)

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.502C>T (p.Gln168Ter)
HGVS:
  • NC_000023.11:g.154558634C>T
  • NG_009896.1:g.21391C>T
  • NM_001099856.6:c.706C>T
  • NM_001099857.5:c.502C>TMANE SELECT
  • NM_001145255.4:c.502C>T
  • NM_001321396.3:c.502C>T
  • NM_001321397.3:c.499C>T
  • NM_001377312.1:c.502C>T
  • NM_001377313.1:c.499C>T
  • NM_001377314.1:c.499C>T
  • NM_001377315.1:c.399+2258C>T
  • NM_003639.4:c.502C>T
  • NP_001093326.2:p.Gln236Ter
  • NP_001093327.1:p.Gln168Ter
  • NP_001138727.1:p.Gln168Ter
  • NP_001308325.1:p.Gln168Ter
  • NP_001308326.1:p.Gln167Ter
  • NP_001364241.1:p.Gln168Ter
  • NP_001364242.1:p.Gln167Ter
  • NP_001364243.1:p.Gln167Ter
  • NP_003630.1:p.Gln168Ter
  • LRG_70t1:c.502C>T
  • LRG_70:g.21391C>T
  • NC_000023.10:g.153786849C>T
  • NM_003639.3:c.502C>T
Protein change:
Q167*
Links:
dbSNP: rs1057521138
NCBI 1000 Genomes Browser:
rs1057521138
Molecular consequence:
  • NM_001377315.1:c.399+2258C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001099856.6:c.706C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001099857.5:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001145255.4:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001321396.3:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001321397.3:c.499C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001377312.1:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001377313.1:c.499C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001377314.1:c.499C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003639.4:c.502C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000521183GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jan 12, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000521183.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The Q168X nonsense variant in the IKBKG gene the IKBKG gene has been previously reported in one patient with incontinentia pigmenti (Conte et al., 2014). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, we interpret Q169X as a pathogenic variant.

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

Last Updated: Apr 23, 2022