NM_000202.8(IDS):c.1375G>T (p.Glu459Ter) AND Mucopolysaccharidosis, MPS-II

Clinical significance:Likely pathogenic (Last evaluated: Oct 1, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001375852.1

Allele description [Variation Report for NM_000202.8(IDS):c.1375G>T (p.Glu459Ter)]

NM_000202.8(IDS):c.1375G>T (p.Glu459Ter)

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.1375G>T (p.Glu459Ter)
HGVS:
  • NC_000023.11:g.149483024C>A
  • NG_011900.3:g.27311G>T
  • NM_000202.8:c.1375G>TMANE SELECT
  • NM_001166550.4:c.1105G>T
  • NP_000193.1:p.Glu459Ter
  • NP_001160022.1:p.Glu369Ter
  • NC_000023.10:g.148564555C>A
Protein change:
E369*
Molecular consequence:
  • NM_000202.8:c.1375G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001166550.4:c.1105G>T - nonsense - [Sequence Ontology: SO:0001587]
Functional consequence:
termination codon change [Variation Ontology: 0309]

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
SCV001572773Pediatrics,All India Institute of Medical Sciences, New Delhino assertion criteria providedLikely pathogenic
(Oct 1, 2014)
germlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
INDIANgermlineyes1not providednot providednot providednot providedresearch

Details of each submission

From Pediatrics,All India Institute of Medical Sciences, New Delhi, SCV001572773.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1INDIAN1not providednot providedresearchnot provided

Description

The change c.1375G>T (p.E459*) was found to be a nonsense variant, where the polar neutral amino acid Glutamine at 459 position was substituted by stop codon leading to early truncation of the peptide. In silico analysis by the web tool Mutation Taster characterise it as a ""Disease causing"" pathogenic variant. It was detected in a patient with severe phenotype from Rajasthan, India.

Description

The change c.1375G>T (p.E459*) was found to be a nonsense variant, where the polar neutral amino acid Glutamine at 459 position was substituted by stop codon leading to early truncation of the peptide. In silico analysis by the web tool Mutation Taster characterise it as a "Disease causing" pathogenic variant. It was detected in a patient with severe phenotype from Rajasthan, India.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 4, 2021

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