GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
DPYD R29Cinsufficiently evaluated pharmacogenetic, f=0.714other

This variant is also known as DPYD*9A, and is associated with Dihydropyrimidine dehydrogenase deficiency and impaired clearance of 5-fluorouracil with potential toxic consequence.

(21 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
DPYD C29Rinsufficiently evaluated pathogenicunknown

(72 web hits)

DPYD I116Minsufficiently evaluated not reviewed, f=0.008unknown var-GS18555-1100-36-ASM
DPYD M166Vpharmacogenetic, f=0.078unknown

Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil.

(30 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS19700-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
DPYD F167Linsufficiently evaluated not reviewedunknown
DPYD A278Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
DPYD M406Iinsufficiently evaluated not reviewed, f=0.020unknown

(1 web hit)

DPYD A450Vinsufficiently evaluated none, f=0.000unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
DPYD D495Ginsufficiently evaluated not reviewedunknown
DPYD S534Ninsufficiently evaluated pharmacogenetic, f=0.016recessive

The variant was implicated in dihydropyrimidine dehydrogenase deficiency when present as a compound heterozygote with M166V. This enzyme is important in the metabolism of the anticancer drug 5-fluorouracil.

(26 web hits)

var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
DPYD I543Vinsufficiently evaluated pharmacogenetic, f=0.185unknown

Increase incidence of nausea with fluoruracil.

(34 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM (hom)
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
CGI sample GS000006909
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19704-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01173-DNA_F06 from PGP sample 64191565
var-GS18505-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19026-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
DPYD I560Ninsufficiently evaluated not reviewedunknown
DPYD R592Winsufficiently evaluated none, f=0.008unknown var-GS18956-1100-36-ASM
DPYD V732Iinsufficiently evaluated none, f=0.042unknown

(19 web hits)

hu34D5B9 exome
CGI sample GS000006909
var-GS07357-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
DPYD T760Iinsufficiently evaluated not reviewedunknown
DPYD R886Hinsufficiently evaluated pathogenicunknown

(31 web hits)

DPYD D949Vinsufficiently evaluated not reviewed, f=0.004unknown var-GS12004-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS06985-1100-36-ASM
DPYD Q972Rinsufficiently evaluated not reviewed, f=0.001unknown var-GS19704-1100-36-ASM
DPYD D974Vinsufficiently evaluated pathogenicunknown

(2 web hits)

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Total results: 19

Gene search

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