NM_001385.3(DPYS):c.1506del (p.Arg503fs) AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 28, 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:: RCV002251978.3

Allele description [Variation Report for NM_001385.3(DPYS):c.1506del (p.Arg503fs)]

NM_001385.3(DPYS):c.1506del (p.Arg503fs)

Gene:

DPYS:dihydropyrimidinase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

8q22.3

Genomic location:

Preferred name:

NM_001385.3(DPYS):c.1506del (p.Arg503fs)

HGVS:

NC_000008.10:g.105393480del
NC_000008.11:g.104381253del
NG_008840.2:g.90798del
NM_001385.3:c.1506delMANE SELECT
NP_001376.1:p.Arg503fs
NC_000008.10:g.105393480del
NC_000008.10:g.105393480delG
NC_000008.10:g.105393481del
NG_008840.1:g.90798del
NM_001385.2:c.1506del
NM_001385.2:c.1506delC
NM_001385.3:c.1506delCMANE SELECT

Protein change:

R503fs

Links:

dbSNP: rs79080341

NCBI 1000 Genomes Browser:

rs79080341

Molecular consequence:

NM_001385.3:c.1506del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002523464	Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 28, 2022)	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

SCV002523464

Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 28, 2022)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein, SCV002523464.2

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

Description

ACMG classification criteria: PVS1

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

Last Updated: Sep 29, 2024

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