NM_000202.8(IDS):c.252C>A (p.Cys84Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 22, 2017
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:: RCV000593133.4

Allele description [Variation Report for NM_000202.8(IDS):c.252C>A (p.Cys84Ter)]

NM_000202.8(IDS):c.252C>A (p.Cys84Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_000202.8(IDS):c.252C>A (p.Cys84Ter)

HGVS:

NC_000023.11:g.149503478G>T
NG_011900.3:g.6857C>A
NM_000202.8:c.252C>AMANE SELECT
NM_001166550.4:c.15-33C>A
NM_006123.5:c.252C>A
NP_000193.1:p.Cys84Ter
NP_006114.1:p.Cys84Ter
NC_000023.10:g.148585008G>T
NR_104128.2:n.421C>A

Protein change:

C84*

Links:

dbSNP: rs1557340286

NCBI 1000 Genomes Browser:

rs1557340286

Molecular consequence:

NM_001166550.4:c.15-33C>A - intron variant - [Sequence Ontology: SO:0001627]
NR_104128.2:n.421C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000202.8:c.252C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_006123.5:c.252C>A - nonsense - [Sequence Ontology: SO:0001587]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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PREDICTED: kin of IRRE-like protein 3, partial [Opisthocomus hoazin]
PREDICTED: kin of IRRE-like protein 3, partial [Opisthocomus hoazin]
gi|700398321|ref|XP_009939900.1|

Protein
ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform 1 [Mus musculus]
ubiquitin carboxyl-terminal hydrolase MINDY-1 isoform 1 [Mus musculus]
gi|300934856|ref|NP_955769.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000709298	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Jun 22, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000709298

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Jun 22, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease).

Vafiadaki E, Cooper A, Heptinstall LE, Hatton CE, Thornley M, Wraith JE.

Arch Dis Child. 1998 Sep;79(3):237-41.

PubMed [citation]

PMID:: 9875019
PMCID:: PMC1717680

Details of each submission

From Eurofins Ntd Llc (ga), SCV000709298.2

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

#	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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