NM_001276254.2(IFNL4):c.151-152G>A AND ribavirin response - Efficacy

Clinical significance:drug response (Last evaluated: Dec 20, 2017)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000417163.1

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:
ribavirin response - Efficacy
Identifiers:
MedGen: CN240603

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000494690PharmGKBreviewed by expert panel
drug response
(Dec 20, 2017)
Condition: ribavirin response - Efficacy
Drug reported used for: Hepatitis C, Chronic
germlinecuration

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000494690

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Factors that predict response of patients with hepatitis C virus infection to boceprevir.

Poordad F, Bronowicki JP, Gordon SC, Zeuzem S, Jacobson IM, Sulkowski MS, Poynard T, Morgan TR, Molony C, Pedicone LD, Sings HL, Burroughs MH, Sniukiene V, Boparai N, Goteti VS, Brass CA, Albrecht JK, Bacon BR; SPRINT-2 and RESPOND-2 Investigators..

Gastroenterology. 2012 Sep;143(3):608-618.e5. doi: 10.1053/j.gastro.2012.05.011. Epub 2012 May 21.

PubMed [citation]
PMID:
22626609

IL28B genotype predicts response to chronic hepatitis C triple therapy with telaprevir or boceprevir in treatment naïve and treatment-experienced patients other than prior partial- and null-responders.

Calisti G, Tavares A, Macartney MJ, McCormick A, Labbett W, Jacobs M, Dusheiko G, Rosenberg WM, Haque T.

Springerplus. 2015;4:357. doi: 10.1186/s40064-015-1137-x.

PubMed [citation]
PMID:
26191484
PMCID:
PMC4503705
See all PubMed Citations (4)

Details of each submission

From PharmGKB, SCV000494690.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (4)

Description

PharmGKB Level of Evidence 2A: Annotation for a variant-drug combination that qualifies for level 2B where the variant is within a VIP (Very Important Pharmacogene) as defined by PharmGKB. The variants in level 2A are in known pharmacogenes, so functional significance is more likely.

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

Last Updated: Mar 30, 2019

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