NM_000852.3(GSTP1):c.313A>G (p.Ile105Val) AND fluorouracil and oxaliplatin response - Efficacy

Clinical significance:drug response (Last evaluated: Jan 27, 2017)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211146.1

Allele description [Variation Report for NM_000852.3(GSTP1):c.313A>G (p.Ile105Val)]

NM_000852.3(GSTP1):c.313A>G (p.Ile105Val)

Gene:
GSTP1:glutathione S-transferase pi 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_000852.3(GSTP1):c.313A>G (p.Ile105Val)
HGVS:
  • NC_000011.10:g.67585218A>G
  • NG_012075.1:g.6624A>G
  • NM_000852.3:c.313A>G
  • NP_000843.1:p.Ile105Val
  • LRG_723t1:c.313A>G
  • LRG_723:g.6624A>G
  • LRG_723p1:p.Ile105Val
  • NC_000011.9:g.67352689A>G
  • P09211:p.Ile105Val
Protein change:
I105V
Links:
PharmGKB Clinical Annotation: 637880221; PharmGKB Clinical Annotation: 827847788; PharmGKB Clinical Annotation: 981238323; UniProtKB: P09211#VAR_014499; dbSNP: rs1695
NCBI 1000 Genomes Browser:
rs1695
Molecular consequence:
  • NM_000852.3:c.313A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
fluorouracil and oxaliplatin response - Efficacy
Identifiers:
MedGen: CN236475

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268196PharmGKBreviewed by expert panel
drug response
(Jan 27, 2017)
Condition: fluorouracil and oxaliplatin response - Efficacy
germlinecuration

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

A multivariate analysis of genomic polymorphisms: prediction of clinical outcome to 5-FU/oxaliplatin combination chemotherapy in refractory colorectal cancer.

Stoehlmacher J, Park DJ, Zhang W, Yang D, Groshen S, Zahedy S, Lenz HJ.

Br J Cancer. 2004 Jul 19;91(2):344-54.

PubMed [citation]
PMID:
15213713
PMCID:
PMC2409815

Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and FOLFOX response in colorectal cancer patients.

Etienne-Grimaldi MC, Milano G, Maindrault-Goebel F, Chibaudel B, Formento JL, Francoual M, Lledo G, André T, Mabro M, Mineur L, Flesch M, Carola E, de Gramont A.

Br J Clin Pharmacol. 2010 Jan;69(1):58-66. doi: 10.1111/j.1365-2125.2009.03556.x.

PubMed [citation]
PMID:
20078613
PMCID:
PMC2830598
See all PubMed Citations (5)

Details of each submission

From PharmGKB, SCV000268196.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (5)

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.

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

Last Updated: Mar 30, 2019

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