Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000202.8(IDS):c.328A>G (p.Arg110Gly)

Help
Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 1, 2020
Accession:
VCV001067177.1
Variation ID:
1067177
Description:
single nucleotide variant
Help

NM_000202.8(IDS):c.328A>G (p.Arg110Gly)

Allele ID
1056736
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xq28
Genomic location
X: 149503402 (GRCh38) GRCh38 UCSC
X: 148584932 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.148584932T>C
NC_000023.11:g.149503402T>C
NM_000202.8:c.328A>G MANE Select NP_000193.1:p.Arg110Gly missense
... more HGVS
Protein change
R110G, R20G
Other names
-
Canonical SPDI
NC_000023.11:149503401:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jun 1, 2020 RCV001378371.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 01, 2020)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-II
Allele origin: germline
Invitae
Accession: SCV001575923.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces arginine with glycine at codon 110 of the IDS protein (p.Arg110Gly). The arginine residue is highly conserved and there is a … (more)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants. Zhang W Clinica chimica acta; international journal of clinical chemistry 2019 PMID: 30639582
Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase. Kosuga M Molecular genetics and metabolism 2016 PMID: 27246110

Record last updated May 13, 2021