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

NC_000019.10:g.39248147C>T AND boceprevir, 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:: RCV001788072.10

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:: boceprevir, peginterferon alfa-2a, peginterferon alfa-2b and ribavirin response - Efficacy
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002031221	PharmGKB	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine)	drug response (Mar 24, 2021) Condition: boceprevir, peginterferon alfa-2a, peginterferon alfa-2b and ribavirin response - Efficacy Drug reported used for: Hepatitis C, Chronic	germline	curation	PubMed (6) [See all records that cite these PMIDs] 22626609, 26191484, 26670100, 27711230, 28469811, 22992668 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002031221

PharmGKB

reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)

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

germline

curation

PubMed (6)
[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

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 (6)

Details of each submission

From PharmGKB, SCV002031221.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (6)

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

ClinVar

Relating variation to medicine