NM_001276254.2(IFNL4):c.151-152G>A AND peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy

Clinical significance:drug response (Last evaluated: Jun 22, 2016)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211184.1

Allele description [Variation Report for NM_001276254.2(IFNL4):c.151-152G>A]

NM_001276254.2(IFNL4):c.151-152G>A

Genes:
IFNL3:interferon lambda 3 [Gene - OMIM - HGNC]
IFNL4:interferon lambda 4 (gene/pseudogene) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_001276254.2(IFNL4):c.151-152G>A
HGVS:
  • NC_000019.10:g.39248147C>T
  • NG_042193.1:g.1825G>A
  • NM_001276254.2:c.151-152G>A
  • NC_000019.9:g.39738787C>T
  • NR_074079.1:n.429-152G>A
Links:
PharmGKB Clinical Annotation: 1183888969; PharmGKB Clinical Annotation: 827862764; dbSNP: rs12979860
NCBI 1000 Genomes Browser:
rs12979860
Molecular consequence:
  • NR_074079.1:n.429-152G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy
Identifiers:
MedGen: CN236451

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268185PharmGKBreviewed by expert panel
drug response
(Jun 22, 2016)
Condition: peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy
Drug reported used for: Hepatitis C, Chronic
germlinecuration

PubMed (8)
[See all records that cite these PMIDs]

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000268185

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Amino acid substitution in hepatitis C virus core region and genetic variation near the interleukin 28B gene predict viral response to telaprevir with peginterferon and ribavirin.

Akuta N, Suzuki F, Hirakawa M, Kawamura Y, Yatsuji H, Sezaki H, Suzuki Y, Hosaka T, Kobayashi M, Kobayashi M, Saitoh S, Arase Y, Ikeda K, Chayama K, Nakamura Y, Kumada H.

Hepatology. 2010 Aug;52(2):421-9. doi: 10.1002/hep.23690.

PubMed [citation]
PMID:
20648473

Influence of ITPA polymorphisms on decreases of hemoglobin during treatment with pegylated interferon, ribavirin, and telaprevir.

Suzuki F, Suzuki Y, Akuta N, Sezaki H, Hirakawa M, Kawamura Y, Hosaka T, Kobayashi M, Saito S, Arase Y, Ikeda K, Kobayashi M, Chayama K, Kamatani N, Nakamura Y, Miyakawa Y, Kumada H.

Hepatology. 2011 Feb;53(2):415-21. doi: 10.1002/hep.24058. Epub 2011 Jan 18.

PubMed [citation]
PMID:
21246582
See all PubMed Citations (8)

Details of each submission

From PharmGKB, SCV000268185.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (8)

Description

PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.

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

Last Updated: Mar 30, 2019

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