NM_172139.4(IFNL3):c.259-126T>C AND ribavirin response - Efficacy - ClinVar

NM_172139.4(IFNL3):c.259-126T>C AND ribavirin response - Efficacy

Germline classification:: drug response (1 submission)
Last evaluated:: Mar 24, 2021
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000417160.5

Allele description [Variation Report for NM_172139.4(IFNL3):c.259-126T>C]

NM_172139.4(IFNL3):c.259-126T>C

Gene:

IFNL3:interferon lambda 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.2

Genomic location:

Preferred name:

NM_172139.4(IFNL3):c.259-126T>C

HGVS:

NC_000019.10:g.39244283A>G
NG_042193.1:g.5689T>C
NM_001346937.2:c.271-126T>C
NM_172139.4:c.259-126T>CMANE SELECT
LRG_1011t1:c.271-126T>C
LRG_1011:g.5689T>C
NC_000019.9:g.39734923A>G

Links:

PharmGKB: 1448102439; PharmGKB: 1448102439PA164749390; PharmGKB: 1448102439PA164784024; PharmGKB: 1448102439PA451241; dbSNP: rs11881222

NCBI 1000 Genomes Browser:

rs11881222

Molecular consequence:

NM_001346937.2:c.271-126T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_172139.4:c.259-126T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: ribavirin response - Efficacy
Identifiers:: MedGen: CN322749

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000494687	PharmGKB	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine)	drug response (Mar 24, 2021) Condition: ribavirin response - Efficacy Drug reported used for: HIV Infections	germline	curation	PubMed (5) [See all records that cite these PMIDs] 19749757, 21346780, 22328925, 23281610, 22992668 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000494687

PharmGKB

reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)

drug response
(Mar 24, 2021)
Condition: ribavirin response - Efficacy
Drug reported used for: HIV Infections

germline

curation

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Genome-wide association of IL28B with response to pegylated interferon-alpha and ribavirin therapy for chronic hepatitis C.

Tanaka Y, Nishida N, Sugiyama M, Kurosaki M, Matsuura K, Sakamoto N, Nakagawa M, Korenaga M, Hino K, Hige S, Ito Y, Mita E, Tanaka E, Mochida S, Murawaki Y, Honda M, Sakai A, Hiasa Y, Nishiguchi S, Koike A, Sakaida I, Imamura M, et al.

Nat Genet. 2009 Oct;41(10):1105-9. doi: 10.1038/ng.449. Epub 2009 Sep 13.

PubMed [citation]

PMID:: 19749757

IL28B genetic variations are associated with high sustained virological response (SVR) of interferon-α plus ribavirin therapy in Taiwanese chronic HCV infection.

Chen JY, Lin CY, Wang CM, Lin YT, Kuo SN, Shiu CF, Chang SW, Wu J, Sheen IS.

Genes Immun. 2011 Jun;12(4):300-9. doi: 10.1038/gene.2011.1. Epub 2011 Feb 24.

PubMed [citation]

PMID:: 21346780
PMCID:: PMC3114195

See all PubMed Citations (5)

Details of each submission

From PharmGKB, SCV000494687.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (5)

Description

PharmGKB Level of Evidence 2A: Variants in Level 2A clinical annotations are found in PharmGKB’s Tier 1 Very Important Pharmacogenes (VIPs). These variants are in known pharmacogenes, implying causation of drug phenotype is more likely. These clinical annotations describe variant-drug combinations with a moderate level of evidence supporting the association. For example, the association may be found in multiple cohorts, but there may be a minority of studies that do not support the majority assertion. Level 2A clinical annotations must be supported by at least two independent publications.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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