NM_000202.8(IDS):c.1350del (p.Pro451fs) AND Mucopolysaccharidosis, MPS-II

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 1, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001089581.1

Allele description [Variation Report for NM_000202.8(IDS):c.1350del (p.Pro451fs)]

NM_000202.8(IDS):c.1350del (p.Pro451fs)

Gene:

IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000202.8(IDS):c.1350del (p.Pro451fs)

HGVS:

NC_000023.11:g.149483049del
NG_011900.3:g.27286del
NM_000202.8:c.1350delMANE SELECT
NM_001166550.4:c.1080del
NP_000193.1:p.Pro451fs
NP_001160022.1:p.Pro361fs
NC_000023.10:g.148564580del

Protein change:

P361fs

Links:

dbSNP: rs2089306467

NCBI 1000 Genomes Browser:

rs2089306467

Molecular consequence:

NM_000202.8:c.1350del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001166550.4:c.1080del - frameshift variant - [Sequence Ontology: SO:0001589]

Functional consequence:

protein truncation [Variation Ontology: 0015]

Condition(s)

Name:: Mucopolysaccharidosis, MPS-II (MPS2)
Synonyms:: Mucopolysaccharidosis type II; Attenuated MPS (subtype; formerly known as mild MPS II); Severe MPS II; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010674; MedGen: C0026705; Orphanet: 580; OMIM: 309900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001194273	Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir	no assertion criteria provided	Pathogenic (Apr 1, 2020)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001194273

Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir

no assertion criteria provided

Pathogenic
(Apr 1, 2020)

germline

research

Help

Summary from all submissions

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

Details of each submission

From Research Laboratory of Human Genome and Multifactorial Diseases, Faculty of Pharmacy, University of Monastir, SCV001194273.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	African	1	not provided	not provided	research	not provided

#	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		1	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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