NM_015717.5(CD207):c.790T>C (p.Trp264Arg) AND Birbeck granule deficiency

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 4, 2024
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:: RCV000005665.5

Allele description [Variation Report for NM_015717.5(CD207):c.790T>C (p.Trp264Arg)]

NM_015717.5(CD207):c.790T>C (p.Trp264Arg)

Gene:

CD207:CD207 molecule [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.3

Genomic location:

Preferred name:

NM_015717.5(CD207):c.790T>C (p.Trp264Arg)

HGVS:

NC_000002.12:g.70831747A>G
NG_033914.1:g.9077T>C
NM_015717.5:c.790T>CMANE SELECT
NP_056532.4:p.Trp264Arg
NC_000002.11:g.71058878A>G
Q9UJ71:p.Trp264Arg

Protein change:

W264R; TRP264ARG

Links:

UniProtKB: Q9UJ71#VAR_063828; OMIM: 604862.0001; dbSNP: rs200837270

NCBI 1000 Genomes Browser:

rs200837270

Molecular consequence:

NM_015717.5:c.790T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Birbeck granule deficiency
Synonyms:: BIRBECK GRANULES, ABSENCE OF
Identifiers:: MONDO: MONDO:0013251; MedGen: C3150657; OMIM: 613393

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Chromosome neighbors for GEO Profiles (Select 1014965) (20)
GEO Profiles
Microarray technology comparison (3OPHs version 1)
Microarray technology comparison (3OPHs version 1)
Accession: GDS222

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025847	OMIM	no assertion criteria provided	Pathogenic (Jun 2, 2006)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 7798619, 15816828, 16567809
SCV004810145	Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 4, 2024)	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

SCV000025847

OMIM

no assertion criteria provided

Pathogenic
(Jun 2, 2006)

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

SCV004810145

Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 4, 2024)

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

Citations

PubMed

Functional human epidermal Langerhans cells that lack Birbeck granules.

Mommaas M, Mulder A, Vermeer BJ, Koning F.

J Invest Dermatol. 1994 Dec;103(6):807-10.

PubMed [citation]

PMID:: 7798619

A lack of Birbeck granules in Langerhans cells is associated with a naturally occurring point mutation in the human Langerin gene.

Verdijk P, Dijkman R, Plasmeijer EI, Mulder AA, Zoutman WH, Mieke Mommaas A, Tensen CP.

J Invest Dermatol. 2005 Apr;124(4):714-7.

PubMed [citation]

PMID:: 15816828

See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000025847.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

In a healthy adult male with Birbeck granule (BG) deficiency (613393) originally reported by Mommaas et al. (1994), Verdijk et al. (2005) identified a heterozygous T-to-C transition at nucleotide 837 in exon 5 of the CD207 gene. The mutation resulted in a trp264-to-arg (W264R) substitution in the conserved carbohydrate recognition domain of langerin. Expression of langerin with the W264R mutation in fibroblasts induced tubular-like structures that were not recognized by anti-BG antibodies and that lacked the characteristic structural features of BGs.

Ward et al. (2006) showed that the W264R mutation in langerin abolished sugar binding.

#	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

From Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, SCV004810145.1

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

#	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: Aug 4, 2024

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