NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys) AND Mucopolysaccharidosis, MPS-II

Clinical significance:Likely pathogenic

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001291747.1

Allele description [Variation Report for NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys)]

NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys)

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.1568A>G (p.Tyr523Cys)
HGVS:
  • NC_000023.11:g.149482831T>C
  • NG_011900.3:g.27504A>G
  • NM_000202.8:c.1568A>GMANE SELECT
  • NM_001166550.4:c.1298A>G
  • NP_000193.1:p.Tyr523Cys
  • NP_001160022.1:p.Tyr433Cys
  • NC_000023.10:g.148564362T>C
Protein change:
Y433C
Molecular consequence:
  • NM_000202.8:c.1568A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166550.4:c.1298A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001480200Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciencescriteria provided, single submitter
Likely pathogenicmaternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indianmaternalyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, SCV001480200.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 27, 2021

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