NM_000202.8(IDS):c.314_317dup (p.Ser107fs) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 8, 2014
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:: RCV000177015.4

Allele description [Variation Report for NM_000202.8(IDS):c.314_317dup (p.Ser107fs)]

NM_000202.8(IDS):c.314_317dup (p.Ser107fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000202.8(IDS):c.314_317dup (p.Ser107fs)

HGVS:

NC_000023.11:g.149503413_149503416dup
NG_011900.3:g.6919_6922dup
NM_000202.8:c.314_317dupMANE SELECT
NM_001166550.4:c.44_47dup
NM_006123.5:c.314_317dup
NP_000193.1:p.Ser107fs
NP_001160022.1:p.Ser17fs
NP_006114.1:p.Ser107fs
NC_000023.10:g.148584943_148584946dup
NR_104128.2:n.483_486dup

Protein change:

S107fs

Links:

dbSNP: rs797044703

NCBI 1000 Genomes Browser:

rs797044703

Molecular consequence:

NM_000202.8:c.314_317dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001166550.4:c.44_47dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_006123.5:c.314_317dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_104128.2:n.483_486dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000228819	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions)	Pathogenic (May 8, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000228819

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions)

Pathogenic
(May 8, 2014)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Eurofins Ntd Llc (ga), SCV000228819.4

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

Last Updated: Aug 4, 2024

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