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

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Apr 30, 2021)
Last evaluated:
Oct 1, 2014
Accession:
VCV001065331.1
Variation ID:
1065331
Description:
single nucleotide variant
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NM_000202.8(IDS):c.1375G>T (p.Glu459Ter)

Allele ID
1053632
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 149483024 (GRCh38) GRCh38 UCSC
X: 148564555 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.148564555C>A
NC_000023.11:g.149483024C>A
NM_000202.8:c.1375G>T MANE Select NP_000193.1:p.Glu459Ter nonsense
... more HGVS
Protein change
E369*, E459*
Other names
-
Canonical SPDI
NC_000023.11:149483023:C:A
Functional consequence
termination codon change [Variation Ontology VariO:0309]
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 no assertion criteria provided Oct 1, 2014 RCV001375852.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
IDS Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
217 641

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 01, 2014)
no assertion criteria provided
Method: research
Mucopolysaccharidosis, MPS-II
(X-linked recessive inheritance)
Allele origin: germline
Pediatrics,All India Institute of Medical Sciences, New Delhi
Accession: SCV001572773.1
Submitted: (Apr 30, 2021)
Evidence details
Comment:
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 … (more)

Functional evidence

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Functional consequence Method Result Submitter Supporting information
termination codon change
  1. Sanger sequencing was performed on ABI 3130 genetic analyser (Applied Biosystem, USA) capillary electrophoresis. Data was analysed by ABI sequence analysis (SeqScape version 2.5) software as well as manually by using software: Chromaspro (Version-1.7.5, Technilysium Pvt. Ltd, Australia) and FinchTV (Version 1.4.0, Geospiza, Perkinelmer, USA).
  1. Result not provided
Pediatrics,All India Institute of Medical Sciences, New Delhi
Accession: SCV001572773.1
Submitted: (Apr 30, 2021)
Evidence details

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated May 04, 2021