NM_000203.5(IDUA):c.612_615dup (p.Ser206fs) AND Hurler syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 9, 2016
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:: RCV000211625.4

Allele description [Variation Report for NM_000203.5(IDUA):c.612_615dup (p.Ser206fs)]

NM_000203.5(IDUA):c.612_615dup (p.Ser206fs)

Gene:

IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

4p16.3

Genomic location:

Preferred name:

NM_000203.5(IDUA):c.612_615dup (p.Ser206fs)

HGVS:

NC_000004.12:g.1001701_1001704dup
NG_008103.1:g.19705_19708dup
NM_000203.5:c.612_615dupMANE SELECT
NM_001363576.1:c.216_219dup
NP_000194.2:p.Ser206fs
NP_001350505.1:p.Ser74fs
LRG_1277t1:c.612_615dup
LRG_1277:g.19705_19708dup
LRG_1277p1:p.Ser206fs
NC_000004.11:g.995489_995492dup
NP_000194.2:p.Ser206Leufs*194
NR_110313.1:n.700_703dup

Protein change:

S206fs

Links:

dbSNP: rs875989947

NCBI 1000 Genomes Browser:

rs875989947

Molecular consequence:

NM_000203.5:c.612_615dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001363576.1:c.216_219dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_110313.1:n.700_703dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Hurler syndrome
Synonyms:: MUCOPOLYSACCHARIDOSIS TYPE IH; Gargoylism, Hurler Syndrome
Identifiers:: MONDO: MONDO:0011758; MedGen: C0086795; OMIM: 607014

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000268689	Genomic Research Center, Shahid Beheshti University of Medical Sciences	no assertion criteria provided	Pathogenic (May 9, 2016)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000268689

Genomic Research Center, Shahid Beheshti University of Medical Sciences

no assertion criteria provided

Pathogenic
(May 9, 2016)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Genomic Research Center, Shahid Beheshti University of Medical Sciences, SCV000268689.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Persian	1	not provided	not provided	clinical testing	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 13, 2025

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