NM_000538.3(RFXAP):c.163C>T (p.Gln55Ter) AND Bare Lymphocyte Syndrome, Type II, Complementation Group D

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 11, 1997
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:: RCV000008091.2

Allele description

NM_000538.3(RFXAP):c.163C>T (p.Gln55Ter)

Gene:

RFXAP:regulatory factor X associated protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q13.3

Genomic location:

Preferred name:

NM_000538.3(RFXAP):c.163C>T (p.Gln55Ter)

HGVS:

NC_000013.11:g.36819520C>T
NG_007876.1:g.5319C>T
NM_000538.3:c.163C>T
NP_000529.1:p.Gln55Ter
LRG_103t1:c.163C>T
LRG_103:g.5319C>T
LRG_103p1:p.Gln55Ter
NC_000013.10:g.37393657C>T

Protein change:

Q53*; GLN53TER

Links:

OMIM: 601861.0004; dbSNP: rs137853098

NCBI 1000 Genomes Browser:

rs137853098

Molecular consequence:

NM_000538.3:c.163C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Bare Lymphocyte Syndrome, Type II, Complementation Group D
Identifiers:: MedGen: C1859537

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000028296	OMIM	no assertion criteria provided	Pathogenic (Sep 11, 1997)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000028296

OMIM

no assertion criteria provided

Pathogenic
(Sep 11, 1997)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency.

Villard J, Lisowska-Grospierre B, van den Elsen P, Fischer A, Reith W, Mach B.

N Engl J Med. 1997 Sep 11;337(11):748-53.

PubMed [citation]

PMID:: 9287230

Details of each submission

From OMIM, SCV000028296.1

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

Description

In a Turkish patient with bare lymphocyte syndrome type II (209920), Villard et al. (1997) demonstrated a C-to-T transition at nucleotide 279 that converted a glutamine codon (CAG) to a premature stop codon (TAG). This mutation led to a severely truncated protein of only 52 amino acids. Direct sequencing of a genomic PCR fragment demonstrated that the patient was homozygous for the mutated allele.

#	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: Dec 17, 2019

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