NM_001276254.2(IFNL4):c.151-152G>A AND peginterferon alfa-2b response - Efficacy - ClinVar

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

Germline classification:: drug response (1 submission)
Last evaluated:: Dec 20, 2017
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:: RCV000417146.1

Allele description

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
NG_055295.1:g.5710G>A
NM_001276254.2:c.151-152G>A
LRG_1011:g.1825G>A
NC_000019.9:g.39738787C>T

Links:

PharmGKB: 1183680546; PharmGKB: 1183680546PA164784024; PharmGKB: 1183680546PA165948902; PharmGKB: 1183680546PA451241; PharmGKB: 1183888969; PharmGKB: 827862764; PharmGKB Clinical Annotation: 1183888969; PharmGKB Clinical Annotation: 827862764; dbSNP: rs12979860

NCBI 1000 Genomes Browser:

rs12979860

Condition(s)

Name:: peginterferon alfa-2b response - Efficacy
Identifiers:: MedGen: CN240584

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000494689	PharmGKB	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine)	drug response (Dec 20, 2017) Condition: peginterferon alfa-2b response - Efficacy Drug reported used for: Hepatitis C, Chronic	germline	curation	PubMed (4) [See all records that cite these PMIDs] 22626609, 26191484, 26670100, 22992668 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000494689

PharmGKB

reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)

drug response
(Dec 20, 2017)
Condition: peginterferon alfa-2b response - Efficacy
Drug reported used for: Hepatitis C, Chronic

germline

curation

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

Citation Link

Description

Drug is not necessarily used to treat response condition: SCV000494689

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

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, SCV000494689.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	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.

#	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: May 19, 2021

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