NM_000202.8(IDS):c.1433A>G (p.Asp478Gly) AND Mucopolysaccharidosis, MPS-II

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 22, 2013
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:: RCV000205679.3

Allele description [Variation Report for NM_000202.8(IDS):c.1433A>G (p.Asp478Gly)]

NM_000202.8(IDS):c.1433A>G (p.Asp478Gly)

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.1433A>G (p.Asp478Gly)

HGVS:

NC_000023.11:g.149482966T>C
NG_011900.3:g.27369A>G
NM_000202.8:c.1433A>GMANE SELECT
NM_001166550.4:c.1163A>G
NP_000193.1:p.Asp478Gly
NP_001160022.1:p.Asp388Gly
NC_000023.10:g.148564497T>C
NM_000202.6:c.1433A>G
P22304:p.Asp478Gly

Protein change:

D388G

Links:

UniProtKB: P22304#VAR_007380; dbSNP: rs864622773

NCBI 1000 Genomes Browser:

rs864622773

Molecular consequence:

NM_000202.8:c.1433A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001166550.4:c.1163A>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000262517	IIFP, CONICET-UNLP	criteria provided, single submitter (ACMG Guidelines, 2007)	Pathogenic (May 22, 2013)	maternal	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000262517

IIFP, CONICET-UNLP

criteria provided, single submitter

(ACMG Guidelines, 2007)

Pathogenic
(May 22, 2013)

maternal

research

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

Help

Summary from all submissions

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

Citations

PubMed

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Richards CS, Bale S, Bellissimo DB, Das S, Grody WW, Hegde MR, Lyon E, Ward BE; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee..

Genet Med. 2008 Apr;10(4):294-300. doi: 10.1097/GIM.0b013e31816b5cae.

PubMed [citation]

PMID:: 18414213

Details of each submission

From IIFP, CONICET-UNLP, SCV000262517.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		1	not provided	1	not provided

Last Updated: Dec 30, 2023

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