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NM_001025603.2(RFX5):c.151-1G>A AND Bare lymphocyte syndrome, type II, complementation group c

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 1999
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:
RCV000008086.2

Allele description [Variation Report for NM_001025603.2(RFX5):c.151-1G>A]

NM_001025603.2(RFX5):c.151-1G>A

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.151-1G>A
HGVS:
  • NC_000001.11:g.151345189C>T
  • NG_007576.1:g.7105G>A
  • NM_000449.4:c.151-1G>A
  • NM_001025603.2:c.151-1G>AMANE SELECT
  • NM_001379412.1:c.151-1G>A
  • NM_001379413.1:c.151-1G>A
  • NM_001379414.1:c.151-1G>A
  • NM_001379415.1:c.151-1G>A
  • NM_001379416.1:c.151-1G>A
  • NM_001379417.1:c.151-1G>A
  • NM_001379418.1:c.151-1G>A
  • NM_001379419.1:c.151-1G>A
  • NM_001379420.1:c.151-1G>A
  • LRG_101:g.7105G>A
  • NC_000001.10:g.151317665C>T
Links:
OMIM: 601863.0004; dbSNP: rs2102068023
NCBI 1000 Genomes Browser:
rs2102068023
Molecular consequence:
  • NM_000449.4:c.151-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001025603.2:c.151-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001379412.1:c.151-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001379413.1:c.151-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001379414.1:c.151-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001379415.1:c.151-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001379416.1:c.151-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001379417.1:c.151-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001379418.1:c.151-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001379419.1:c.151-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001379420.1:c.151-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Bare lymphocyte syndrome, type II, complementation group c
Identifiers:
MedGen: C1859536

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028291OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 1999) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene.

Peijnenburg A, Van Eggermond MC, Van den Berg R, Sanal O, Vossen JM, Van den Elsen PJ.

Immunogenetics. 1999 Apr;49(4):338-45.

PubMed [citation]
PMID:
10079298

Details of each submission

From OMIM, SCV000028291.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Peijnenburg et al. (1999) fused fibroblasts of a patient with bare lymphocyte syndrome type II, complementation group C (209920), with fibroblasts derived from patients representative of each of the 4 complementation groups. Transient heterokaryon analysis indicated that the patient belonged to complementation group C. Furthermore, transfection of wildtype RFX5 cDNA into the patient's fibroblasts resulted in correction of the defect. Mutation analysis revealed that the RFX5 mRNA lacked 4 nucleotides and that this deletion was a consequence of a G-to-A transition in a splice acceptor site. The patient was found to be homozygous for the splice site mutation. The nucleotides deleted were CAAG at positions 312-315 of the RFX5 cDNA. The deletion led to a frameshift and an out of frame stop codon located at nucleotides 403-405 of the wildtype RFX5 cDNA sequence. As a result, the mutated RFX5 mRNA encoded a truncated protein of 82 amino acids which lacked the DNA binding domain (DBD). The presence of the G-to-A point mutation and the use of a cryptic splice acceptor site (aCAAG) apparently resulted in an RFX5 mRNA from which 4 nucleotides of the particular exon were spliced out. Both parents were heterozygous for the mutation.

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

Last Updated: Dec 24, 2023