chr1:97450058:C>T Detail (hg38) (DPYD)

Information

Genome

Assembly Position
hg19 chr1:97,915,614-97,915,614 View the variant detail on this assembly version.
hg38 chr1:97,450,058-97,450,058

HGVS

Type Transcript Protein
RefSeq NM_000110.3:c.1905+1G>A
Ensemble ENST00000370192.8:c.1905+1G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance drug response
Review star
Show details
Links
Type Database ID Link
Gene MIM 612779 OMIM
HGNC 3012 HGNC
Ensembl ENSG00000188641 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv2493644 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-03-17 criteria provided, multiple submitters, no conflicts dihydropyrimidine dehydrogenase deficiency unknown germline Detail
Pathogenic 2016-05-04 criteria provided, single submitter germline Detail
Pathogenic 2024-01-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Uncertain significance 2015-04-01 no assertion criteria provided Hirschsprung disease, susceptibility to, 1 germline Detail
Pathogenic criteria provided, single submitter Global developmental delay,intellectual disability,Macroglossia,Autism,Cognitive impairment germline Detail
Pathogenic criteria provided, single submitter Global developmental delay,intellectual disability,Macroglossia,Autism,Cognitive impairment germline Detail
Pathogenic criteria provided, single submitter Global developmental delay,intellectual disability,Macroglossia,Autism,Cognitive impairment germline Detail
Pathogenic criteria provided, single submitter Global developmental delay,intellectual disability,Macroglossia,Autism,Cognitive impairment germline Detail
Pathogenic criteria provided, single submitter Global developmental delay,intellectual disability,Macroglossia,Autism,Cognitive impairment germline Detail
drug response 2021-05-24 reviewed by expert panel germline Detail
drug response 2021-05-24 reviewed by expert panel germline Detail
drug response 2021-05-24 reviewed by expert panel germline Detail
drug response 2021-05-24 reviewed by expert panel germline Detail
Pathogenic 2021-03-09 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
cancer Tegafur,Fluorouracil,Capecitabine A Predictive Supports Adverse Response Common Germline 5 23988873 Detail
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Hirschsprung disease 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
The Clinical Pharmacogenomics Implementation Consortium Guidelines for DPYD genotype and 5-FU dosing... CIViC Evidence Detail
NM_000110.4(DPYD):c.1905+1G>A AND Dihydropyrimidine dehydrogenase deficiency ClinVar Detail
NM_000110.4(DPYD):c.1905+1G>A AND Fluorouracil response ClinVar Detail
NM_000110.4(DPYD):c.1905+1G>A AND not provided ClinVar Detail
NM_000110.4(DPYD):c.1905+1G>A AND Hirschsprung disease, susceptibility to, 1 ClinVar Detail
NM_000110.4(DPYD):c.1905+1G>A AND multiple conditions ClinVar Detail
NM_000110.4(DPYD):c.1905+1G>A AND multiple conditions ClinVar Detail
NM_000110.4(DPYD):c.1905+1G>A AND multiple conditions ClinVar Detail
NM_000110.4(DPYD):c.1905+1G>A AND multiple conditions ClinVar Detail
NM_000110.4(DPYD):c.1905+1G>A AND multiple conditions ClinVar Detail
NM_000110.4(DPYD):c.1905+1G>A AND fluorouracil response - Toxicity ClinVar Detail
NM_000110.4(DPYD):c.1905+1G>A AND fluorouracil response - Other ClinVar Detail
NM_000110.4(DPYD):c.1905+1G>A AND capecitabine response - Toxicity ClinVar Detail
NM_000110.4(DPYD):c.1905+1G>A AND tegafur response - Toxicity ClinVar Detail
NM_000110.4(DPYD):c.1905+1G>A AND Inborn genetic diseases ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3918290 dbSNP
Genome
hg38
Position
chr1:97,450,058-97,450,058
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121254
Allele Counts in All Race (ExAC)
634
Heterozygous Counts in All Race (ExAC)
624
Homozygous Counts in All Race (ExAC)
5
Allele Frequency in All Race (ExAC)
0.005228693486400449
Variant (CIViC) (CIViC Variant)
DPYD*2A HOMOZYGOSITY
Transcript 1 (CIViC Variant)
ENST00000370192.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/737
Genome browser