NC_000019.10:g.39248147C>T AND peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy - ClinVar

NC_000019.10:g.39248147C>T AND peginterferon alfa-2a, peginterferon alfa-2b, 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:: RCV000211399.12

Allele description [Variation Report for NC_000019.10:g.39248147C>T]

NC_000019.10:g.39248147C>T

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:

NC_000019.10:g.39248147C>T

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>AMANE SELECT
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, and ribavirin response - Efficacy
Identifiers:: MedGen: CN322718

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000268184	PharmGKB	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine)	drug response (Mar 24, 2021) Condition: peginterferon alfa-2a, peginterferon alfa-2b and ribavirin response - Efficacy Drug reported used for: Hepatitis C	germline	curation	PubMed (70) [See all records that cite these PMIDs] 19684573, 20176026, 20389235, 20399780, 20578254, 20621700, 20728570, 20804372, 20931559, 20964522, 21068134, 21112657, 21145807, 21157362, 21254158, 21346780, 21374656, 21390311, 21447862, 21466653, 21505315, 21537116, 21572301, 21606533, 21726252, 21907615, 21911885, 21951981, 21987611, 21993426, 22328925, 22345656, 22368681, 22438096, 22863269, 23142377, 23291588, 23321318, 23383658, 23490377, 23712427, 24072198, 24073221, 24102823, 24117654, 24308755, 24748394, 24768758, 25278709, 25705565, 25918016, 25958342, 26032235, 26098993, 26284539, 26339796, 26699619, 26902034, 26911666, 27498543, 27514956, 27714501, 27833958, 28186161, 28261910, 28703131, 28739427, 30450628, 31803800, 22992668 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000268184

PharmGKB

reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)

drug response
(Mar 24, 2021)
Condition: peginterferon alfa-2a, peginterferon alfa-2b and ribavirin response - Efficacy
Drug reported used for: Hepatitis C

germline

curation

PubMed (70)
[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

Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance.

Ge D, Fellay J, Thompson AJ, Simon JS, Shianna KV, Urban TJ, Heinzen EL, Qiu P, Bertelsen AH, Muir AJ, Sulkowski M, McHutchison JG, Goldstein DB.

Nature. 2009 Sep 17;461(7262):399-401. doi: 10.1038/nature08309. Epub 2009 Aug 16.

PubMed [citation]

PMID:: 19684573

Replicated association between an IL28B gene variant and a sustained response to pegylated interferon and ribavirin.

McCarthy JJ, Li JH, Thompson A, Suchindran S, Lao XQ, Patel K, Tillmann HL, Muir AJ, McHutchison JG.

Gastroenterology. 2010 Jun;138(7):2307-14. doi: 10.1053/j.gastro.2010.02.009. Epub 2010 Feb 19.

PubMed [citation]

PMID:: 20176026
PMCID:: PMC2883666

See all PubMed Citations (70)

Details of each submission

From PharmGKB, SCV000268184.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (70)

Description

PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.

#	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: Nov 3, 2024

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