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NM_020529.3(NFKBIA):c.341C>T (p.Pro114Leu) AND Ectodermal dysplasia and immunodeficiency 2

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 15, 2023
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:
RCV001215940.7

Allele description [Variation Report for NM_020529.3(NFKBIA):c.341C>T (p.Pro114Leu)]

NM_020529.3(NFKBIA):c.341C>T (p.Pro114Leu)

Genes:
LOC130055494:ATAC-STARR-seq lymphoblastoid active region 8276 [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.341C>T (p.Pro114Leu)
HGVS:
  • NC_000014.9:g.35403356G>A
  • NG_007571.1:g.6383C>T
  • NM_020529.3:c.341C>TMANE SELECT
  • NP_065390.1:p.Pro114Leu
  • LRG_89t1:c.341C>T
  • LRG_89:g.6383C>T
  • NC_000014.8:g.35872562G>A
  • NM_020529.2:c.341C>T
Protein change:
P114L
Links:
dbSNP: rs760056320
NCBI 1000 Genomes Browser:
rs760056320
Molecular consequence:
  • NM_020529.3:c.341C>T - 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
SCV001387709Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Apr 15, 2023) 		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, SCV001387709.5

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

Description

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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 945324). This variant has not been reported in the literature in individuals affected with NFKBIA-related conditions. This variant is present in population databases (rs760056320, gnomAD 0.004%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 114 of the NFKBIA protein (p.Pro114Leu).

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

Last Updated: Sep 29, 2024