NM_003721.4(RFXANK):c.271+1G>C AND Bare lymphocyte syndrome, type II, complementation group B

Clinical significance:Pathogenic (Last evaluated: May 1, 2001)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000006978.3

Allele description [Variation Report for NM_003721.4(RFXANK):c.271+1G>C]

NM_003721.4(RFXANK):c.271+1G>C

Gene:
RFXANK:regulatory factor X associated ankyrin containing protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.11
Genomic location:
Preferred name:
NM_003721.4(RFXANK):c.271+1G>C
HGVS:
  • NC_000019.10:g.19197047G>C
  • NG_007432.1:g.9849G>C
  • NM_001278727.1:c.271+1G>C
  • NM_001278728.1:c.268+1G>C
  • NM_001370233.1:c.271+1G>C
  • NM_001370234.1:c.271+1G>C
  • NM_001370235.1:c.268+1G>C
  • NM_001370236.1:c.268+1G>C
  • NM_001370237.1:c.268+1G>C
  • NM_001370238.1:c.271+1G>C
  • NM_003721.4:c.271+1G>CMANE SELECT
  • NM_134440.2:c.268+1G>C
  • LRG_102:g.9849G>C
  • NC_000019.9:g.19307856G>C
  • NM_003721.3:c.271+1G>C
Note:
ClinGen staff contributed the HGVS expression for this variant.
Nucleotide change:
IVS4DS, G-C, +1
Links:
OMIM: 603200.0003; dbSNP: rs759667201
NCBI 1000 Genomes Browser:
rs759667201
Molecular consequence:
  • NM_001278727.1:c.271+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001278728.1:c.268+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370233.1:c.271+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370234.1:c.271+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370235.1:c.268+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370236.1:c.268+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370237.1:c.268+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001370238.1:c.271+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_003721.4:c.271+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_134440.2:c.268+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Bare lymphocyte syndrome, type II, complementation group B
Identifiers:
MedGen: C1859535

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000027174OMIMno assertion criteria providedPathogenic
(May 1, 2001)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Uncoordinated HLA-D gene expression in a RFXANK-defective patient with MHC class II deficiency.

Lennon-Duménil AM, Barbouche MR, Vedrenne J, Prod'Homme T, Béjaoui M, Ghariani S, Charron D, Fellous M, Dellagi K, Alcaïde-Loridan C.

J Immunol. 2001 May 1;166(9):5681-7.

PubMed [citation]
PMID:
11313409

Details of each submission

From OMIM, SCV000027174.2

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

Description

Lennon-Dumenil et al. (2001) described a patient of North African origin with MHC class II deficiency (209920). The patient had a homozygous 1-bp transversion (G to C) that abolished the splice site downstream of exon 4 of the RFXANK gene, resulting in a premature stop codon and an inactive protein lacking all 3 ankyrin domains. Northern and Western blot analyses of a cell line established from the patient revealed a lack of expression of HLA-DPA (142880), HLA-DRB (142857), HLA-DQB (604305), and HLA-DPB (142858), but near normal expression of HLA-DRA (142860) and HLA-DQA (146880). The authors identified an alternatively spliced RFXANK gene product that lacks exon 4, resulting in a 28-amino acid deletion, and complementation and cytofluorometric analyses confirmed that this alternative RFXANK cDNA could rescue HLA-DRA and HLA-DRB expression.

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

Last Updated: Jan 25, 2021

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