NM_000246.4(CIITA):c.139C>G (p.Leu47Val) AND MHC class II deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 1, 2021
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:: RCV001342488.6

Allele description [Variation Report for NM_000246.4(CIITA):c.139C>G (p.Leu47Val)]

NM_000246.4(CIITA):c.139C>G (p.Leu47Val)

Gene:

CIITA:class II major histocompatibility complex transactivator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.13

Genomic location:

Preferred name:

NM_000246.4(CIITA):c.139C>G (p.Leu47Val)

HGVS:

NC_000016.10:g.10895368C>G
NG_009628.1:g.23171C>G
NM_000246.4:c.139C>GMANE SELECT
NM_001286402.1:c.139C>G
NM_001286403.2:c.139C>G
NM_001379330.1:c.139C>G
NM_001379331.1:c.139C>G
NM_001379332.1:c.139C>G
NM_001379333.1:c.139C>G
NM_001379334.1:c.67C>G
NP_000237.2:p.Leu47Val
NP_001273331.1:p.Leu47Val
NP_001273332.1:p.Leu47Val
NP_001366259.1:p.Leu47Val
NP_001366260.1:p.Leu47Val
NP_001366261.1:p.Leu47Val
NP_001366262.1:p.Leu47Val
NP_001366263.1:p.Leu23Val
LRG_49:g.23171C>G
NC_000016.9:g.10989225C>G
NR_104444.2:n.268C>G

Protein change:

L23V

Links:

dbSNP: rs1247471372

NCBI 1000 Genomes Browser:

rs1247471372

Molecular consequence:

NM_000246.4:c.139C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001286402.1:c.139C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001286403.2:c.139C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001379330.1:c.139C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001379331.1:c.139C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001379332.1:c.139C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001379333.1:c.139C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001379334.1:c.67C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_104444.2:n.268C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: MHC class II deficiency
Synonyms:: BLS, TYPE II; SCID, HLA CLASS II-NEGATIVE; Bare Lymphocyte Syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008855; MedGen: C2931418; Orphanet: 572; OMIM: PS209920

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001536423	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 1, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001536423

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 1, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV001536423.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This sequence change replaces leucine with valine at codon 47 of the CIITA protein (p.Leu47Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CIITA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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