NM_020134.4(DPYSL5):c.395T>C (p.Val132Ala) AND Ritscher-Schinzel syndrome 4

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 3, 2023
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:: RCV003142365.1

Allele description [Variation Report for NM_020134.4(DPYSL5):c.395T>C (p.Val132Ala)]

NM_020134.4(DPYSL5):c.395T>C (p.Val132Ala)

Gene:

DPYSL5:dihydropyrimidinase like 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p23.3

Genomic location:

Preferred name:

NM_020134.4(DPYSL5):c.395T>C (p.Val132Ala)

HGVS:

NC_000002.12:g.26925020T>C
NM_001253723.2:c.395T>C
NM_001253724.2:c.395T>C
NM_020134.4:c.395T>CMANE SELECT
NP_001240652.1:p.Val132Ala
NP_001240653.1:p.Val132Ala
NP_064519.2:p.Val132Ala
NC_000002.11:g.27147888T>C

Protein change:

V132A

Links:

dbSNP: rs746781941

Molecular consequence:

NM_001253723.2:c.395T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001253724.2:c.395T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_020134.4:c.395T>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Ritscher-Schinzel syndrome 4
Identifiers:: MONDO: MONDO:0030331; MedGen: C5561939; OMIM: 619435

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
SCV003807934	Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 3, 2023)	germline	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

SCV003807934

Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 3, 2023)

germline

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	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

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 Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV003807934.1

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

Description

ACMG classification criteria: PM2 moderated

#	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: May 16, 2025

ClinVar

Relating variation to medicine