NM_002454.2(MTRR):c.66A>G (p.Ile22Met) AND methotrexate response - Toxicity/ADR

Clinical significance:drug response (Last evaluated: Jan 30, 2018)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211244.1

Allele description [Variation Report for NM_002454.2(MTRR):c.66A>G (p.Ile22Met)]

NM_002454.2(MTRR):c.66A>G (p.Ile22Met)

Gene:
MTRR:5-methyltetrahydrofolate-homocysteine methyltransferase reductase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.31
Genomic location:
Preferred name:
NM_002454.2(MTRR):c.66A>G (p.Ile22Met)
Other names:
p.I49M:ATA>ATG
HGVS:
  • NC_000005.10:g.7870860A>G
  • NG_008856.1:g.6757A>G
  • NM_002454.2:c.66A>G
  • NM_024010.2:c.147A>G
  • NP_002445.2:p.Ile22Met
  • NP_076915.2:p.Ile49Met
  • NC_000005.9:g.7870973A>G
  • NR_134480.1:n.203A>G
  • Q9UBK8:p.Ile49Met
Protein change:
I22M; ILE22MET
Links:
PharmGKB Clinical Annotation: 981202393; UniProtKB: Q9UBK8#VAR_012836; OMIM: 602568.0003; dbSNP: rs1801394
NCBI 1000 Genomes Browser:
rs1801394
Molecular consequence:
  • NM_002454.2:c.66A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_134480.1:n.203A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
methotrexate response - Toxicity/ADR
Identifiers:
MedGen: CN236607

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268240PharmGKBreviewed by expert panel
drug response
(Jan 30, 2018)
Condition: methotrexate response - Toxicity/ADR
Drug reported used for: Precursor Cell Lymphoblastic Leukemia-Lymphoma
germlinecuration

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000268240

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Effect of polymorphisms in folate-related genes on in vitro methotrexate sensitivity in pediatric acute lymphoblastic leukemia.

de Jonge R, Hooijberg JH, van Zelst BD, Jansen G, van Zantwijk CH, Kaspers GJ, Peters GJ, Ravindranath Y, Pieters R, Lindemans J.

Blood. 2005 Jul 15;106(2):717-20. Epub 2005 Mar 29. Erratum in: Blood. 2005 Aug 15;106(4):1198. Jansen, Gerritz [corrected to Jansen, Gerrit]; van Zantwijk, Christine H [corrected to van Zantwijk, Christina H]; Kaspers, Gert Jan L [corrected to Kaspers, Gertjan J L]; Peters, Frits G J [corrected to Peters, Godefridus J].

PubMed [citation]
PMID:
15797993

Polymorphisms of genes controlling homocysteine levels and IQ score following the treatment for childhood ALL.

Krajinovic M, Robaey P, Chiasson S, Lemieux-Blanchard E, Rouillard M, Primeau M, Bournissen FG, Moghrabi A.

Pharmacogenomics. 2005 Apr;6(3):293-302.

PubMed [citation]
PMID:
16013960
See all PubMed Citations (4)

Details of each submission

From PharmGKB, SCV000268240.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (4)

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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