ClinVar Miner

Variants with conflicting interpretations studied for Dihydropyrimidine dehydrogenase deficiency

Coded as:
Minimum review status of the submission for Dihydropyrimidine dehydrogenase deficiency: Y axis collection method of the submission for Dihydropyrimidine dehydrogenase deficiency:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
95 15 0 11 2 6 5 20

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Dihydropyrimidine dehydrogenase deficiency pathogenic likely pathogenic uncertain significance likely benign benign drug response other
pathogenic 0 3 2 0 1 2 0
likely pathogenic 5 0 2 0 0 2 1
uncertain significance 2 1 0 0 0 2 0
likely benign 0 0 1 0 5 1 0
benign 0 0 1 2 0 0 0

Condition to condition summary #

Total conditions: 16
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not provided 0 16 0 5 2 0 2 8
Dihydropyrimidine dehydrogenase deficiency 115 8 0 4 0 0 3 7
not specified 0 2 0 5 0 0 0 5
Fluorouracil response 0 0 0 0 0 1 1 2
Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK 0 0 0 0 0 2 0 2
capecitabine response - Toxicity/ADR, Metabolism/PK 0 0 0 0 0 2 0 2
fluorouracil response - Other 0 0 0 0 0 2 0 2
fluorouracil response - Toxicity/ADR 0 0 0 0 0 2 0 2
fluorouracil response - Toxicity/ADR, Metabolism/PK 0 0 0 0 0 2 0 2
tegafur response - Toxicity/ADR, Metabolism/PK 0 0 0 0 0 2 0 2
Autistic disorder of childhood onset; Macroglossia; Global developmental delay; Seizures; Hallux valgus; Cognitive impairment; Aggressive behavior; Coarse facial features; Mandibular prognathia; 2-3 toe syndactyly; Bulbous nose; Frontal bossing; Thick lower lip vermilion; Widely spaced teeth; Intellectual disability; Short toe; Clinodactyly of the 5th toe; Intellectual disability, profound; Abnormal aggressive, impulsive or violent behavior; Slit-like opening of the exterior auditory meatus; Shortening of all phalanges of fingers; Profound global developmental delay 0 0 0 0 0 0 1 1
Hirschsprung disease 1 0 0 0 0 0 0 1 1
Inborn genetic diseases 0 0 0 0 0 0 1 1
Pyrimidine analogues response - Toxicity/ADR 0 0 0 0 0 1 0 1
capecitabine response - Toxicity/ADR 0 0 0 0 0 1 0 1
tegafur response - Toxicity/ADR 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 20
Download table as spreadsheet
HGVS dbSNP
NM_000110.3(DPYD):c.1129-15T>C rs56293913
NM_000110.3(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000110.3(DPYD):c.1627A>G (p.Ile543Val) rs1801159
NM_000110.3(DPYD):c.1679T>G (p.Ile560Ser) rs55886062
NM_000110.3(DPYD):c.1896T>C (p.Phe632=) rs17376848
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000110.3(DPYD):c.208C>T (p.Arg70Ter) rs141597515
NM_000110.3(DPYD):c.2194G>A (p.Val732Ile) rs1801160
NM_000110.3(DPYD):c.220C>T (p.Arg74Ter) rs189768576
NM_000110.3(DPYD):c.2275C>T (p.Arg759Ter) rs759372918
NM_000110.3(DPYD):c.2303C>A (p.Thr768Lys) rs56005131
NM_000110.3(DPYD):c.2657G>A (p.Arg886His) rs1801267
NM_000110.3(DPYD):c.2846A>T (p.Asp949Val) rs67376798
NM_000110.3(DPYD):c.299_302delTCAT (p.Phe100Serfs) rs72549309
NM_000110.3(DPYD):c.496A>G (p.Met166Val) rs2297595
NM_000110.3(DPYD):c.557A>G (p.Tyr186Cys) rs115232898
NM_000110.3(DPYD):c.661G>T (p.Glu221Ter) rs146170505
NM_000110.3(DPYD):c.703C>T (p.Arg235Trp) rs1801266
NM_000110.3(DPYD):c.85T>C (p.Cys29Arg) rs1801265
NM_001160301.1(DPYD):c.127_134delAGAAATCC (p.Arg43Terfs) rs1207177925

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