NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) AND Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK - ClinVar

delete

NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) AND Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK

Germline classification:: drug response (1 submission)
Last evaluated:: May 14, 2018
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:: RCV000417148.2

Allele description

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_000110.3:c.2846A>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
c.2846A>T

Protein change:

D949V

Links:

Genetic Testing Registry (GTR): GTR000509033; Genetic Testing Registry (GTR): GTR000593450; PharmGKB: 981203618; PharmGKB: 981203618PA128406956; PharmGKB: 981203618PA164713220; PharmGKB: 981203618PA448771; PharmGKB: 981203618PA452620; PharmGKB Clinical Annotation: 981203618; dbSNP: rs67376798

NCBI 1000 Genomes Browser:

rs67376798

Molecular consequence:

NM_000110.3:c.2846A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_000110.4:c.2846A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK
Identifiers:: MedGen: CN240586

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000494718	PharmGKB	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine)	drug response (May 14, 2018) Condition: Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK Drug reported used for: Neoplasms	germline	curation	PubMed (37) [See all records that cite these PMIDs] 11156223, 11988088, 16115930, 17064846, 17121937, 17700593, 18299612, 19104657, 19795123, 20819423, 21077799, 21410976, 21498394, 23603345, 23736036, 23930673, 24167597, 24590654, 24647007, 24648345, 24923815, 25381393, 25410891, 25677447, 26099996, 26216193, 26265035, 26603945, 26794347, 26804652, 27454530, 27995989, 28295243, 28427087, 28481884, 29065426, 22992668 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000494718

PharmGKB

reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)

drug response
(May 14, 2018)
Condition: Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK
Drug reported used for: Neoplasms

germline

curation

PubMed (37)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe 5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene.

van Kuilenburg AB, Haasjes J, Richel DJ, Zoetekouw L, Van Lenthe H, De Abreu RA, Maring JG, Vreken P, van Gennip AH.

Clin Cancer Res. 2000 Dec;6(12):4705-12.

PubMed [citation]

PMID:: 11156223

Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure.

van Kuilenburg AB, Dobritzsch D, Meinsma R, Haasjes J, Waterham HR, Nowaczyk MJ, Maropoulos GD, Hein G, Kalhoff H, Kirk JM, Baaske H, Aukett A, Duley JA, Ward KP, Lindqvist Y, van Gennip AH.

Biochem J. 2002 May 15;364(Pt 1):157-63.

PubMed [citation]

PMID:: 11988088
PMCID:: PMC1222557

See all PubMed Citations (37)

Details of each submission

From PharmGKB, SCV000494718.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (37)

Description

PharmGKB Level of Evidence 1A: Annotation for a variant-drug combination in a CPIC or medical society-endorsed PGx guideline, or implemented at a PGRN site or in another major health system.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 29, 2021

ClinVar

Relating variation to medicine