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NM_020529.3(NFKBIA):c.50G>A (p.Arg17His) AND Ectodermal dysplasia and immunodeficiency 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 1, 2022
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:
RCV002741492.3

Allele description [Variation Report for NM_020529.3(NFKBIA):c.50G>A (p.Arg17His)]

NM_020529.3(NFKBIA):c.50G>A (p.Arg17His)

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.50G>A (p.Arg17His)
HGVS:
  • NC_000014.9:g.35404595C>T
  • NG_007571.1:g.5144G>A
  • NM_020529.3:c.50G>AMANE SELECT
  • NP_065390.1:p.Arg17His
  • NP_065390.1:p.Arg17His
  • LRG_89t1:c.50G>A
  • LRG_89:g.5144G>A
  • LRG_89p1:p.Arg17His
  • NC_000014.8:g.35873801C>T
  • NM_020529.2:c.50G>A
Protein change:
R17H
Molecular consequence:
  • NM_020529.3:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ectodermal dysplasia and immunodeficiency 2
Synonyms:
Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant
Identifiers:
MONDO: MONDO:0012806; MedGen: C2677481; Orphanet: 238468; Orphanet: 98813; OMIM: 612132

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003012960Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Sep 1, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003012960.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 17 of the NFKBIA protein (p.Arg17His). This variant has not been reported in the literature in individuals affected with NFKBIA-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.

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

Last Updated: Sep 29, 2024