NM_000202.8(IDS):c.1150_1151insAAAGGGTCGCA (p.Phe384Ter) AND Mucopolysaccharidosis, MPS-II

Germline classification:: Pathogenic (1 submission)
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:: RCV001291016.2

Allele description [Variation Report for NM_000202.8(IDS):c.1150_1151insAAAGGGTCGCA (p.Phe384Ter)]

NM_000202.8(IDS):c.1150_1151insAAAGGGTCGCA (p.Phe384Ter)

Genes:

LOC106050102:IDS recombination region [Gene]
IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000202.8(IDS):c.1150_1151insAAAGGGTCGCA (p.Phe384Ter)

HGVS:

NC_000023.11:g.149486954_149486955insTGCGACCCTTT
NG_011900.3:g.23380_23381insAAAGGGTCGCA
NG_042264.1:g.309_310insTGCGACCCTTT
NM_000202.8:c.1150_1151insAAAGGGTCGCAMANE SELECT
NM_001166550.4:c.880_881insAAAGGGTCGCA
NP_000193.1:p.Phe384Ter
NP_001160022.1:p.Phe294Ter
NC_000023.10:g.148568485_148568486insTGCGACCCTTT

Protein change:

F294*

Links:

dbSNP: rs2089341188

NCBI 1000 Genomes Browser:

rs2089341188

Molecular consequence:

NM_000202.8:c.1150_1151insAAAGGGTCGCA - nonsense - [Sequence Ontology: SO:0001587]
NM_001166550.4:c.880_881insAAAGGGTCGCA - nonsense - [Sequence Ontology: SO:0001587]

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

Recent activity

Clear Turn Off Turn On

D013132 (1)
MeSH
Spinocerebellar Degenerations
Spinocerebellar Degenerations
A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and ...<br/>Year introduced: 2000(1987)

MeSH

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
SCV001450619	Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics	no assertion criteria provided	Pathogenic	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001450619

Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

no assertion criteria provided

Pathogenic

germline

research

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	research

Details of each submission

From Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics, SCV001450619.2

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

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine