VCV000014911.1 - ClinVar

HLA–B*58:01

Germline

Classification

The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.

(4)

Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.

risk factor

no assertion criteria provided

Somatic

No data submitted for somatic clinical impact

Somatic

No data submitted for oncogenicity

Variant Details

Identifiers

HLA–B*58:01

Variation ID: 14911 Accession: VCV000014911.1

Type and length

Variation, -

Location

Cytogenetic: 6p21.3 -

Timeline in ClinVar

	First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.	Last submission Help The date of the most recent submission for each type of classification for this variant.	Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline	Aug 7, 2013	Apr 28, 2017	Mar 15, 2005

HGVS

Protein change

Other names

HLAB*58:01

Canonical SPDI

Functional consequence Help The effect of the variant on RNA or protein function, based on experimental evidence from submitters.

Global minor allele frequency (GMAF) Help The global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.

Allele frequency Help The frequency of the allele represented by this VCV record.

Links

Genetic Testing Registry (GTR): GTR000569874 OMIM: 142830.0004

Genes

Gene	OMIM	ClinGen Gene Dosage Sensitivity Curation		Variation Viewer Help Links to Variation Viewer, a genome browser to view variation data from NCBI databases.	Related variants
Gene	OMIM	HI score Help The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.	TS score Help The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team.		Within gene Help The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants.	All Help The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene.
HLA-B		-	-	GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh38 GRCh37	37	49

Conditions - Germline

Condition Help The condition for this variant-condition (RCV) record in ClinVar.	Classification Help The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions)	Review status Help The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status.	Last evaluated Help The most recent date that a submitter evaluated this variant for the condition.	Variation/condition record Help The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page.
Toxic epidermal necrolysis	risk factor (1)	no assertion criteria provided	Mar 15, 2005	RCV000016046.3
Susceptibility to severe cutaneous adverse reaction	risk factor (1)	no assertion criteria provided	Mar 15, 2005	RCV000016044.3
Allopurinol response	not provided (1)	no classification provided	Nov 13, 2012	RCV000031851.1
Stevens-Johnson syndrome, susceptibility to	risk factor (1)	no assertion criteria provided	Mar 15, 2005	RCV004576902.1

Submissions - Germline

Classification Help The submitted germline classification for each SCV record. (Last evaluated)	Review status Help Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria)	Condition Help The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant.	Submitter Help The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar.	More information Help This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter.
risk factor (Mar 15, 2005)	no assertion criteria provided Method: literature only	TOXIC EPIDERMAL NECROLYSIS, SUSCEPTIBILITY TO Affected status: not provided Allele origin: germline	OMIM Accession: SCV000036313.2 First in ClinVar: Apr 04, 2013 Last updated: Apr 28, 2017	Publications: PubMed (1) PubMed: 15743917 Comment on evidence: To identify genetic markers for allopurinol-induced severe cutaneous adverse reaction (SCAR; 608579), Hung et al. (2005) genotyped 51 patients with allopurinol-SCAR and 228 controls (135 … (more) To identify genetic markers for allopurinol-induced severe cutaneous adverse reaction (SCAR; 608579), Hung et al. (2005) genotyped 51 patients with allopurinol-SCAR and 228 controls (135 allopurinol-tolerant patients and 93 healthy individuals) for 823 SNPs in genes related to drug metabolism and immune response. All participants were unrelated Han Chinese residing in Taiwan. The HLA-B5801 allele was present in all 51 of the patients with allopurinol-SCAR, but in only 15% of allopurinol-tolerant controls and 20% of healthy controls (p = 4.7 x 10(-24) and p = 8.1 x 10(-18), respectively). Hung et al. (2005) concluded that the HLA-B5801 allele is an important genetic risk factor for severe cutaneous adverse reactions to allopurinol in the Han Chinese population. (less)
risk factor (Mar 15, 2005)	no assertion criteria provided Method: literature only	STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO Affected status: not provided Allele origin: germline	OMIM Accession: SCV000036312.2 First in ClinVar: Apr 04, 2013 Last updated: Apr 28, 2017	Publications: PubMed (1) PubMed: 15743917 Comment on evidence: To identify genetic markers for allopurinol-induced severe cutaneous adverse reaction (SCAR; 608579), Hung et al. (2005) genotyped 51 patients with allopurinol-SCAR and 228 controls (135 … (more) To identify genetic markers for allopurinol-induced severe cutaneous adverse reaction (SCAR; 608579), Hung et al. (2005) genotyped 51 patients with allopurinol-SCAR and 228 controls (135 allopurinol-tolerant patients and 93 healthy individuals) for 823 SNPs in genes related to drug metabolism and immune response. All participants were unrelated Han Chinese residing in Taiwan. The HLA-B5801 allele was present in all 51 of the patients with allopurinol-SCAR, but in only 15% of allopurinol-tolerant controls and 20% of healthy controls (p = 4.7 x 10(-24) and p = 8.1 x 10(-18), respectively). Hung et al. (2005) concluded that the HLA-B5801 allele is an important genetic risk factor for severe cutaneous adverse reactions to allopurinol in the Han Chinese population. (less)
risk factor (Mar 15, 2005)	no assertion criteria provided Method: literature only	SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO Affected status: not provided Allele origin: germline	OMIM Accession: SCV000036311.2 First in ClinVar: Apr 04, 2013 Last updated: Apr 28, 2017	Publications: PubMed (1) PubMed: 15743917 Comment on evidence: To identify genetic markers for allopurinol-induced severe cutaneous adverse reaction (SCAR; 608579), Hung et al. (2005) genotyped 51 patients with allopurinol-SCAR and 228 controls (135 … (more) To identify genetic markers for allopurinol-induced severe cutaneous adverse reaction (SCAR; 608579), Hung et al. (2005) genotyped 51 patients with allopurinol-SCAR and 228 controls (135 allopurinol-tolerant patients and 93 healthy individuals) for 823 SNPs in genes related to drug metabolism and immune response. All participants were unrelated Han Chinese residing in Taiwan. The HLA-B5801 allele was present in all 51 of the patients with allopurinol-SCAR, but in only 15% of allopurinol-tolerant controls and 20% of healthy controls (p = 4.7 x 10(-24) and p = 8.1 x 10(-18), respectively). Hung et al. (2005) concluded that the HLA-B5801 allele is an important genetic risk factor for severe cutaneous adverse reactions to allopurinol in the Han Chinese population. (less)
not provided (Nov 13, 2012)	no classification provided Method: curation	Allopurinol response Affected status: not provided Allele origin: germline	ClinVar Staff, National Center for Biotechnology Information (NCBI) Accession: SCV000054459.1 First in ClinVar: Aug 07, 2013 Last updated: Aug 07, 2013

Germline 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 germline classification of this variant

Title	Author	Journal	Year	Link
2020 American College of Rheumatology Guideline for the Management of Gout.	FitzGerald JD	Arthritis care & research	2020	PMID: 32391934
Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for human leukocyte antigen B (HLA-B) genotype and allopurinol dosing: 2015 update.	Saito Y	Clinical pharmacology and therapeutics	2016	PMID: 26094938
HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol.	Hung SI	Proceedings of the National Academy of Sciences of the United States of America	2005	PMID: 15743917

Text-mined citations for this variant ...

Record last updated Nov 25, 2024

ClinVar Genomic variation as it relates to human health

HLA–B*58:01

Variant Details

Genes

Conditions - Germline

Submissions - Germline

Germline Functional Evidence

Citations for germline classification of this variant

Text-mined citations for this variant ...