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HLA-DRB1, HLA-DRB1*1101

Interpretation:: risk factor
Review status:: no assertion criteria provided
Submissions:: 1
First in ClinVar:: Apr 4, 2013
Most recent Submission:: Apr 4, 2013
Last evaluated:: Oct 1, 2003
Accession:: VCV000014905.1
Variation ID:: 14905
Description:: variation

HLA-DRB1, HLA-DRB1*1101

Allele ID: 29944
Variant type: Variation
Variant length: -
Cytogenetic location: 6p21.3
Genomic location: -
HGVS: -
Protein change: -
Other names: -
Canonical SPDI: -
Functional consequence: -
Global minor allele frequency (GMAF): -
Allele frequency: -
Links: OMIM: 142857.0001

Aggregate interpretations per condition

Interpreted condition	Interpretation	Number of submissions	Review status	Last evaluated	Variation/condition record
Sarcoidosis, susceptibility to, 1	risk factor	1	no assertion criteria provided	Oct 1, 2003	RCV000016034.2

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation viewer	Related variants
Gene	OMIM	HI score Help	TS score Help	Variation viewer	Within gene	All
HLA-DRB1		-	-	GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37	12	30

Submitted interpretations and evidence

Interpretation (Last evaluated)	Review status (Assertion criteria)	Condition (Inheritance)	Submitter	More information
risk factor (Oct 01, 2003)	no assertion criteria provided Method: literature only	- SARCOIDOSIS, SUSCEPTIBILITY TO, 1 Affected status: not provided Allele origin: germline	OMIM Accession: SCV000036301.1 First in ClinVar: Apr 04, 2013 Last updated: Apr 04, 2013	Publications: PubMed (1) PubMed: 14508706 Comment on evidence: Rossman et al. (2003) concluded that HLA-DRB1 alleles were differentially distributed between cases of sarcoidosis (181000) and case-matched controls. The HLA-DRB11101 allele was associated (P … (more) Rossman et al. (2003) concluded that HLA-DRB1 alleles were differentially distributed between cases of sarcoidosis (181000) and case-matched controls. The HLA-DRB11101 allele was associated (P less than 0.01) with sarcoidosis in blacks and whites and had a population attributable risk of 16% in blacks and 9% in whites. Phenylalanine-47 (F47) of the HLA-DRB1 allele was the amino acid residue most associated with sarcoidosis and independently associated with sarcoidosis in whites; it was present on the 3 alleles most associated with sarcoidosis (HLA-DRB11101, HLA-DRB11201, and HLA-DRB1*1501). F47 may be the most important amino acid residue associated with peptide binding in sarcoidosis. Rossman et al. (2003) quoted evidence that amino acid residues at position 47 would affect pocket 7, and mutations of the amino acid residues of pocket 7 peptides affect T-cell recognition. (less)

Functional evidence

There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Title	Author	Journal	Year	Link
HLA-DRB1*1101: a significant risk factor for sarcoidosis in blacks and whites.	Rossman MD	American journal of human genetics	2003	PMID: 14508706

Record last updated Apr 25, 2022