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

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

Germline classification:: drug response (1 submission)
Last evaluated:: Jun 22, 2016
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:: RCV000211184.1

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

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uroporphyrinogen III synthase [Candidatus Blochmanniella floridana]
uroporphyrinogen III synthase [Candidatus Blochmanniella floridana]
gi|33504370|emb|CAD83263.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000268185	PharmGKB	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine)	drug response (Jun 22, 2016) Condition: peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy Drug reported used for: Hepatitis C, Chronic	germline	curation	PubMed (8) [See all records that cite these PMIDs] 20648473, 21246582, 23321318, 24117654, 25393304, 26191484, 26670100, 22992668 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000268185

PharmGKB

reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)

drug response
(Jun 22, 2016)
Condition: peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy
Drug reported used for: Hepatitis C, Chronic

germline

curation

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

Citation Link

Description

Drug is not necessarily used to treat response condition: SCV000268185

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

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

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

#	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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