NM_000202.8(IDS):c.328A>G (p.Arg110Gly) AND Mucopolysaccharidosis, MPS-II

Clinical significance:Likely pathogenic (Last evaluated: Jun 1, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001378371.1

Allele description [Variation Report for NM_000202.8(IDS):c.328A>G (p.Arg110Gly)]

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

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.328A>G (p.Arg110Gly)
HGVS:
  • NC_000023.11:g.149503402T>C
  • NG_011900.3:g.6933A>G
  • NM_000202.8:c.328A>GMANE SELECT
  • NM_001166550.4:c.58A>G
  • NM_006123.5:c.328A>G
  • NP_000193.1:p.Arg110Gly
  • NP_001160022.1:p.Arg20Gly
  • NP_006114.1:p.Arg110Gly
  • NC_000023.10:g.148584932T>C
  • NR_104128.2:n.497A>G
Protein change:
R110G
Molecular consequence:
  • NM_000202.8:c.328A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166550.4:c.58A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006123.5:c.328A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104128.2:n.497A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV001575923Invitaecriteria provided, single submitter
Likely pathogenic
(Jun 1, 2020)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants.

Zhang W, Xie T, Sheng H, Shao Y, Lin Y, Jiang M, Xu A, Su X, Liu Z, Zhao X, Liu L, Huang Y.

Clin Chim Acta. 2019 Apr;491:114-120. doi: 10.1016/j.cca.2019.01.009. Epub 2019 Jan 11.

PubMed [citation]
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, Mashima R, Hirakiyama A, Fuji N, Kumagai T, Seo JH, Nikaido M, Saito S, Ohno K, Sakuraba H, Okuyama T.

Mol Genet Metab. 2016 Jul;118(3):190-197. doi: 10.1016/j.ymgme.2016.05.003. Epub 2016 May 7.

PubMed [citation]
PMID:
27246110
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001575923.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

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 moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with mucopolysaccharidosis II (PMID: 30639582, Invitae). This variant has been reported to affect IDS protein function (PMID: 30639582). This variant disrupts the p.Arg110 amino acid residue in IDS. Other variant(s) that disrupt this residue have been observed in individuals with IDS-related conditions (PMID: 27246110), which suggests that this may be a clinically significant amino acid residue. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 14, 2021

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