NM_001385.3(DPYS):c.1027A>G (p.Thr343Ala) AND Dihydropyrimidinase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 3, 2022
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001808271.1

Allele description [Variation Report for NM_001385.3(DPYS):c.1027A>G (p.Thr343Ala)]

NM_001385.3(DPYS):c.1027A>G (p.Thr343Ala)

Gene:

DPYS:dihydropyrimidinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.3

Genomic location:

Preferred name:

NM_001385.3(DPYS):c.1027A>G (p.Thr343Ala)

HGVS:

NC_000008.11:g.104428045T>C
NG_008840.2:g.44005A>G
NM_001385.3:c.1027A>GMANE SELECT
NP_001376.1:p.Thr343Ala
NC_000008.10:g.105440273T>C

Protein change:

T343A

Links:

dbSNP: rs201457190

NCBI 1000 Genomes Browser:

rs201457190

Molecular consequence:

NM_001385.3:c.1027A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Dihydropyrimidinase deficiency (DPYSD)
Synonyms:: DIHYDROPYRIMIDINURIA; DPH DEFICIENCY; DPYS DEFICIENCY
Identifiers:: MONDO: MONDO:0009111; MedGen: C0342803; Orphanet: 38874; OMIM: 222748

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002058926	3billion	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 3, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] PMID:20362666

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002058926

3billion

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 3, 2022)

germline

clinical testing

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

PMID:20362666

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From 3billion, SCV002058926.1

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

Description

Same nucleotide change resulting in same amino acid change has been previously reported to be associated with DPYS related disorder (PMID:20362666, PS1_P). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.72, PP3_P). A missense variant is a common mechanism associated with Dihydropyrimidinuria (PP2_P). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000223, PM2_M). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine