NM_052958.3(C8orf34):c.736+8162C>G AND irinotecan response - Toxicity/ADR

Clinical significance:drug response (Last evaluated: Jul 11, 2016)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211148.1

Allele description [Variation Report for NM_052958.3(C8orf34):c.736+8162C>G]

NM_052958.3(C8orf34):c.736+8162C>G

Gene:
C8orf34:chromosome 8 open reading frame 34 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q13.2
Genomic location:
Preferred name:
NM_052958.3(C8orf34):c.736+8162C>G
HGVS:
  • NC_000008.11:g.68476982C>G
  • NG_055258.1:g.151261C>G
  • NM_052958.3:c.736+8162C>G
  • NC_000008.10:g.69389217C>G
Links:
PharmGKB Clinical Annotation: 1183680511; dbSNP: rs1517114
NCBI 1000 Genomes Browser:
rs1517114
Molecular consequence:
  • NM_052958.3:c.736+8162C>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
irinotecan response - Toxicity/ADR
Identifiers:
MedGen: CN236598

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268193PharmGKBreviewed by expert panel
drug response
(Jul 11, 2016)
Condition: irinotecan response - Toxicity/ADR
Drug reported used for: Carcinoma, Non-Small-Cell Lung
germlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000268193

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

A genome-wide association study for irinotecan-related severe toxicities in patients with advanced non-small-cell lung cancer.

Han JY, Shin ES, Lee YS, Ghang HY, Kim SY, Hwang JA, Kim JY, Lee JS.

Pharmacogenomics J. 2013 Oct;13(5):417-22. doi: 10.1038/tpj.2012.24. Epub 2012 Jun 5.

PubMed [citation]
PMID:
22664479

Pharmacogenomics knowledge for personalized medicine.

Whirl-Carrillo M, McDonagh EM, Hebert JM, Gong L, Sangkuhl K, Thorn CF, Altman RB, Klein TE.

Clin Pharmacol Ther. 2012 Oct;92(4):414-7. doi: 10.1038/clpt.2012.96. Review.

PubMed [citation]
PMID:
22992668
PMCID:
PMC3660037

Details of each submission

From PharmGKB, SCV000268193.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.

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

Last Updated: Mar 30, 2019

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