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NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) AND tegafur response - Toxicity

Germline classification:
drug response (1 submission)
Last evaluated:
May 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:
RCV001787865.10

Allele description [Variation Report for NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)]

NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)

Gene:
DPYD:dihydropyrimidine dehydrogenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p21.3
Genomic location:
Preferred name:
NM_000110.4(DPYD):c.2846A>T (p.Asp949Val)
HGVS:
  • NC_000001.11:g.97082391T>A
  • NG_008807.2:g.843669A>T
  • NM_000110.4:c.2846A>TMANE SELECT
  • NP_000101.2:p.Asp949Val
  • NP_000101.2:p.Asp949Val
  • LRG_722t1:c.2846A>T
  • LRG_722:g.843669A>T
  • LRG_722p1:p.Asp949Val
  • NC_000001.10:g.97547947T>A
  • NC_000001.9:g.97320535T>A
  • NM_000110.3:c.2846A>T
  • c.2846A>T
Protein change:
D949V
Links:
Genetic Testing Registry (GTR): GTR000509033; Genetic Testing Registry (GTR): GTR000593450; Genetic Testing Registry (GTR): GTR000613302; PharmGKB: 981203618; PharmGKB: 981203618PA128406956; PharmGKB: 981203618PA164713220; PharmGKB: 981203618PA448771; PharmGKB: 981203618PA452620; PharmGKB Clinical Annotation: 981203618; dbSNP: rs67376798
NCBI 1000 Genomes Browser:
rs67376798
Molecular consequence:
  • NM_000110.4:c.2846A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
tegafur response - Toxicity
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002031292PharmGKB
reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)		drug response
(May 24, 2021)
Condition: tegafur response - Toxicity
Drug reported used for: Neoplasms		germlinecuration

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Phase II study of preoperative radiation plus concurrent daily tegafur-uracil (UFT) with leucovorin for locally advanced rectal cancer.

Cellier P, Leduc B, Martin L, Vié B, Chevelle C, Vendrely V, Salemkour A, Carrie C, Calais G, Burtin P, Campion L, Boisdron-Celle M, Morel A, Berger V, Gamelin E.

BMC Cancer. 2011 Mar 16;11:98. doi: 10.1186/1471-2407-11-98.

PubMed [citation]
PMID:
21410976
PMCID:
PMC3070684

DPYD IVS14+1G>A and 2846A>T genotyping for the prediction of severe fluoropyrimidine-related toxicity: a meta-analysis.

Terrazzino S, Cargnin S, Del Re M, Danesi R, Canonico PL, Genazzani AA.

Pharmacogenomics. 2013 Aug;14(11):1255-72. doi: 10.2217/pgs.13.116.

PubMed [citation]
PMID:
23930673
See all PubMed Citations (4)

Details of each submission

From PharmGKB, SCV002031292.1

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

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.

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

Last Updated: Nov 24, 2024