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NM_001099857.5(IKBKG):c.1260G>C (p.Ter420Tyr) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 10, 2018
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:
RCV000522162.2

Allele description [Variation Report for NM_001099857.5(IKBKG):c.1260G>C (p.Ter420Tyr)]

NM_001099857.5(IKBKG):c.1260G>C (p.Ter420Tyr)

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.1260G>C (p.Ter420Tyr)
Other names:
*420Y; *419Y; *321Y; *488Y
HGVS:
  • NC_000023.11:g.154564461G>C
  • NG_009896.1:g.27218G>C
  • NM_001099856.6:c.1464G>C
  • NM_001099857.5:c.1260G>CMANE SELECT
  • NM_001145255.4:c.963G>C
  • NM_001321396.3:c.1260G>C
  • NM_001321397.3:c.1257G>C
  • NM_001377312.1:c.1260G>C
  • NM_001377313.1:c.1257G>C
  • NM_001377314.1:c.1104G>C
  • NM_001377315.1:c.891G>C
  • NM_003639.4:c.1260G>C
  • NP_001093326.2:p.Ter488Tyr
  • NP_001093327.1:p.Ter420Tyr
  • NP_001138727.1:p.Ter321Tyr
  • NP_001308325.1:p.Ter420Tyr
  • NP_001308326.1:p.Ter419Tyr
  • NP_001364241.1:p.Ter420Tyr
  • NP_001364242.1:p.Ter419Tyr
  • NP_001364243.1:p.Ter368Tyr
  • NP_001364244.1:p.Ter297Tyr
  • NP_003630.1:p.Ter420Tyr
  • LRG_70t1:c.1260G>C
  • LRG_70:g.27218G>C
  • NC_000023.10:g.153792676G>C
  • NM_003639.3:c.1260G>C
  • NR_165197.1:n.1129G>C
Links:
dbSNP: rs1557236929
NCBI 1000 Genomes Browser:
rs1557236929
Molecular consequence:
  • NR_165197.1:n.1129G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001099856.6:c.1464G>C - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001099857.5:c.1260G>C - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001145255.4:c.963G>C - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001321396.3:c.1260G>C - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001321397.3:c.1257G>C - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001377312.1:c.1260G>C - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001377313.1:c.1257G>C - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001377314.1:c.1104G>C - stop lost - [Sequence Ontology: SO:0001578]
  • NM_001377315.1:c.891G>C - stop lost - [Sequence Ontology: SO:0001578]
  • NM_003639.4:c.1260G>C - stop lost - [Sequence Ontology: SO:0001578]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000621934GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely pathogenic
(May 10, 2018) 		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, SCV000621934.2

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

Description

The c.1260 G>C variant in the IKBKG gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The nucleotide substitution destroys the Stop codon at position Stop 420, changes this codon to a Tyrosine and creates a new Stop codon at position 27 of the new reading frame, denoted p.Ter420TyrextX27. However, without supporting functional studies, it cannot be definitively determined that this protein elongation will have deleterious affect. In summary, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.

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

Last Updated: Apr 23, 2022