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NM_020529.3(NFKBIA):c.25C>T (p.Gln9Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 14, 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:
RCV000325290.2

Allele description [Variation Report for NM_020529.3(NFKBIA):c.25C>T (p.Gln9Ter)]

NM_020529.3(NFKBIA):c.25C>T (p.Gln9Ter)

Genes:
LOC130055497:ATAC-STARR-seq lymphoblastoid silent region 5676 [Gene]
NFKBIA:NFKB inhibitor alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q13.2
Genomic location:
Preferred name:
NM_020529.3(NFKBIA):c.25C>T (p.Gln9Ter)
HGVS:
  • NC_000014.9:g.35404620G>A
  • NG_007571.1:g.5119C>T
  • NM_020529.3:c.25C>TMANE SELECT
  • NP_065390.1:p.Gln9Ter
  • NP_065390.1:p.Gln9Ter
  • LRG_89t1:c.25C>T
  • LRG_89:g.5119C>T
  • LRG_89p1:p.Gln9Ter
  • NC_000014.8:g.35873826G>A
  • NM_020529.2:c.25C>T
Protein change:
Q9*
Links:
dbSNP: rs886041411
NCBI 1000 Genomes Browser:
rs886041411
Molecular consequence:
  • NM_020529.3:c.25C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000330025GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Mar 14, 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, SCV000330025.6

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

Description

The Q9X variant in the NFKBIA gene has been reported previously in a Japanese patient with anhidrotic ectodermal dysplasia, recurrent viral and bacterial infections, and inflammatory bowel disease (Ohnishi et al., 2012). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q9X variant was not observed in approximately 6400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Functional studies indicate that cells expressing Q9X have a significant dose-dependent inhibitory effect on NF-kB activity compared to wild type (Ohnishi et al., 2012). We interpret Q9X as a pathogenic variant.

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

Last Updated: Feb 25, 2025