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

NM_000110.4(DPYD):c.2846A>T (p.Asp949Val) AND capecitabine 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:: RCV001787864.10

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:: capecitabine response - Toxicity
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002031290	PharmGKB	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine)	drug response (May 24, 2021) Condition: capecitabine response - Toxicity Drug reported used for: Neoplasms	germline	curation	PubMed (29) [See all records that cite these PMIDs] 19104657, 19795123, 20819423, 21077799, 21498394, 23603345, 23736036, 23930673, 24167597, 24590654, 24647007, 24923815, 25677447, 26099996, 26603945, 27454530, 27995989, 28427087, 28481884, 29065426, 29846282, 29889674, 29998006, 30114658, 30485432, 30723313, 30858516, 31486738, 22992668 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002031290

PharmGKB

reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)

drug response
(May 24, 2021)
Condition: capecitabine response - Toxicity
Drug reported used for: Neoplasms

germline

curation

PubMed (29)
[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

Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients.

Gross E, Busse B, Riemenschneider M, Neubauer S, Seck K, Klein HG, Kiechle M, Lordick F, Meindl A.

PLoS One. 2008;3(12):e4003. doi: 10.1371/journal.pone.0004003. Epub 2008 Dec 23.

PubMed [citation]

PMID:: 19104657
PMCID:: PMC2602733

The contribution of deleterious DPYD gene sequence variants to fluoropyrimidine toxicity in British cancer patients.

Loganayagam A, Arenas-Hernandez M, Fairbanks L, Ross P, Sanderson JD, Marinaki AM.

Cancer Chemother Pharmacol. 2010 Jan;65(2):403-6. doi: 10.1007/s00280-009-1147-x. Epub 2009 Oct 1.

PubMed [citation]

PMID:: 19795123

See all PubMed Citations (29)

Details of each submission

From PharmGKB, SCV002031290.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (29)

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.

#	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 24, 2024

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