NM_000202.8(IDS):c.508-1G>A AND Mucopolysaccharidosis, MPS-II

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 16, 2007
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:: RCV000206667.1

Allele description

NM_000202.8(IDS):c.508-1G>A

Genes:

LOC106050102:IDS recombination region [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.508-1G>A

HGVS:

NC_000023.11:g.149498308C>T
NG_011900.3:g.12027G>A
NG_042264.1:g.11663C>T
NM_000202.8:c.508-1G>AMANE SELECT
NM_001166550.4:c.238-1G>A
NM_006123.5:c.508-1G>A
NC_000023.10:g.148579839C>T
NM_000202.6:c.508-1G>A

Links:

dbSNP: rs113993947

NCBI 1000 Genomes Browser:

rs113993947

Molecular consequence:

NM_000202.8:c.508-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001166550.4:c.238-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_006123.5:c.508-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Mucopolysaccharidosis, MPS-II (MPS2)
Synonyms:: MPS 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
SCV000262538	LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata	criteria provided, single submitter (ACMG Guidelines, 2007)	Pathogenic (May 16, 2007)	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

SCV000262538

LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata

criteria provided, single submitter

(ACMG Guidelines, 2007)

Pathogenic
(May 16, 2007)

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	2	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 LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata, SCV000262538.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	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		2	not provided	1	not provided

Last Updated: Jan 17, 2021

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