NM_000110.4(DPYD):c.704G>A (p.Arg235Gln) AND Dihydropyrimidine dehydrogenase deficiency

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Mar 13, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV000671470.4

Allele description [Variation Report for NM_000110.4(DPYD):c.704G>A (p.Arg235Gln)]

NM_000110.4(DPYD):c.704G>A (p.Arg235Gln)

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.704G>A (p.Arg235Gln)

HGVS:

NC_000001.11:g.97691775C>T
NG_008807.2:g.234285G>A
NM_000110.4:c.704G>AMANE SELECT
NP_000101.2:p.Arg235Gln
NP_000101.2:p.Arg235Gln
LRG_722t1:c.704G>A
LRG_722:g.234285G>A
LRG_722p1:p.Arg235Gln
NC_000001.10:g.98157331C>T
NM_000110.3:c.704G>A

Protein change:

R235Q

Links:

dbSNP: rs755416212

NCBI 1000 Genomes Browser:

rs755416212

Molecular consequence:

NM_000110.4:c.704G>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

variation affecting protein function [Variation Ontology: 0003]

Condition(s)

Name:: Dihydropyrimidine dehydrogenase deficiency (DPYDD)
Synonyms:: DPYD DEFICIENCY; DPD deficiency; Pyrimidinemia familial; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010130; MedGen: C1959620; Orphanet: 1675; OMIM: 274270

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000796446	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Dec 14, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV004194076	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 13, 2024)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000796446

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Dec 14, 2017)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link,

SCV004194076

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 13, 2024)

unknown

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of two novel mutations C79X and R235Q in the dihydropyrimidine dehydrogenase gene in a patient presenting with hematuria.

van Kuilenburg AB, Meijer J, Dobritzsch D, Lohkamp B, Ruitenbeek W, Roelofsen J, Abeling NG, Duran M, Buzing C.

Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):809-15. doi: 10.1080/15257770802146247.

PubMed [citation]

PMID:: 18600544

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Counsyl, SCV000796446.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

From Baylor Genetics, SCV004194076.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Jun 23, 2024

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