NM_000927.4(ABCB1):c.3435T>C (p.Ile1145=) AND methotrexate response - Toxicity/ADR

Clinical significance:drug response

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211266.1

Allele description

NM_000927.4(ABCB1):c.3435T>C (p.Ile1145=)

Gene:
ABCB1:ATP binding cassette subfamily B member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.12
Genomic location:
Preferred name:
NM_000927.4(ABCB1):c.3435T>C (p.Ile1145=)
HGVS:
  • NC_000007.14:g.87509329A>G
  • NG_011513.1:g.208920T>C
  • NM_000927.4:c.3435T>C
  • NP_000918.2:p.Ile1145=
  • NC_000007.13:g.87138645A>G
Nucleotide change:
3435C-T
Links:
PharmGKB Clinical Annotation: 1183632195; PharmGKB Clinical Annotation: 1296599132; PharmGKB Clinical Annotation: 1444704833; PharmGKB Clinical Annotation: 655386244; PharmGKB Clinical Annotation: 981204372; OMIM: 171050.0002; dbSNP: rs1045642
GMAF:
0.3952(A), 1045642
NCBI 1000 Genomes Browser:
rs1045642
Molecular consequence:
  • NM_000927.4:c.3435T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268137PharmGKBreviewed by expert panel
drug response
Condition: methotrexate response - Toxicity/ADR
Drug reported used for: Burkitt Lymphoma;Drug Toxicity;Lymphoma, T-Cell;Precursor Cell Lymphoblastic Leukemia-Lymphoma;Toxic liver disease
germlineliterature only

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

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000268137

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Effect of polymorphisms within methotrexate pathway genes on methotrexate toxicity and plasma levels in adults with hematological malignancies.

Suthandiram S, Gan GG, Zain SM, Bee PC, Lian LH, Chang KM, Ong TC, Mohamed Z.

Pharmacogenomics. 2014 Aug;15(11):1479-94. doi: 10.2217/pgs.14.97.

PubMed [citation]
PMID:
25303299

Polymorphisms in the ABCB1 gene and effect on outcome and toxicity in childhood acute lymphoblastic leukemia.

Gregers J, Gréen H, Christensen IJ, Dalhoff K, Schroeder H, Carlsen N, Rosthoej S, Lausen B, Schmiegelow K, Peterson C.

Pharmacogenomics J. 2015 Aug;15(4):372-9. doi: 10.1038/tpj.2014.81. Epub 2015 Jan 13.

PubMed [citation]
PMID:
25582575
PMCID:
PMC4762905
See all PubMed Citations (5)

Details of each submission

From PharmGKB, SCV000268137.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only 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: Nov 29, 2017