NM_001025603.2(RFX5):c.446G>A (p.Arg149Gln) AND MHC CLASS II DEFICIENCY 5

delete

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2002
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004556040.1

Allele description

NM_001025603.2(RFX5):c.446G>A (p.Arg149Gln)

Gene:

RFX5:regulatory factor X5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.3

Genomic location:

Preferred name:

NM_001025603.2(RFX5):c.446G>A (p.Arg149Gln)

HGVS:

NC_000001.11:g.151344444C>T
NG_007576.1:g.7850G>A
NM_000449.4:c.446G>A
NM_001025603.2:c.446G>AMANE SELECT
NM_001379412.1:c.446G>A
NM_001379413.1:c.446G>A
NM_001379414.1:c.446G>A
NM_001379415.1:c.446G>A
NM_001379416.1:c.446G>A
NM_001379417.1:c.446G>A
NM_001379418.1:c.446G>A
NM_001379419.1:c.326G>A
NM_001379420.1:c.326G>A
NP_000440.1:p.Arg149Gln
NP_000440.1:p.Arg149Gln
NP_001020774.1:p.Arg149Gln
NP_001366341.1:p.Arg149Gln
NP_001366342.1:p.Arg149Gln
NP_001366343.1:p.Arg149Gln
NP_001366344.1:p.Arg149Gln
NP_001366345.1:p.Arg149Gln
NP_001366346.1:p.Arg149Gln
NP_001366347.1:p.Arg149Gln
NP_001366348.1:p.Arg109Gln
NP_001366349.1:p.Arg109Gln
LRG_101t1:c.446G>A
LRG_101:g.7850G>A
LRG_101p1:p.Arg149Gln
NC_000001.10:g.151316920C>T
NM_000449.3:c.446G>A
P48382:p.Arg149Gln

Protein change:

R109Q; ARG149GLN

Links:

UniProtKB: P48382#VAR_015550; OMIM: 601863.0005; dbSNP: rs137853099

NCBI 1000 Genomes Browser:

rs137853099

Molecular consequence:

NM_000449.4:c.446G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001025603.2:c.446G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379412.1:c.446G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379413.1:c.446G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379414.1:c.446G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379415.1:c.446G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379416.1:c.446G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379417.1:c.446G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379418.1:c.446G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379419.1:c.326G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379420.1:c.326G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: MHC CLASS II DEFICIENCY 5 (MHC2D5)
Synonyms:: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E
Identifiers:: OMIM: 620818

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028292	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2002)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 7990905, 12368908

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028292

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2002)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Brief report: twin boys with major histocompatibility complex class II deficiency but inducible immune responses.

Wolf HM, Hauber I, Gulle H, Thon V, Eggenbauer H, Fischer MB, Fiala S, Eibl MM.

N Engl J Med. 1995 Jan 12;332(2):86-90. No abstract available.

PubMed [citation]

PMID:: 7990905

Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome.

Nekrep N, Jabrane-Ferrat N, Wolf HM, Eibl MM, Geyer M, Peterlin BM.

Nat Immunol. 2002 Nov;3(11):1075-81. Epub 2002 Sep 30.

PubMed [citation]

PMID:: 12368908

Details of each submission

From OMIM, SCV000028292.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In cell lines (Ker) derived from a pair of Turkish twin brothers with MHC class II deficiency-5 (MHC2D5; 620818) originally reported by Wolf et al. (1995), Nekrep et al. (2002) identified a G-to-A transition at nucleotide 446 of the RFX5 gene, resulting in an arg149-to-gln (R149Q) mutation in the DNA-binding domain. In vitro functional expression studies showed that the mutant protein was unable to bind to the promoter of HLA-DRA (142860). In contrast to patients with other RFX5 mutations, the twin boys had a relatively mild phenotype.

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

Last Updated: May 26, 2024

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