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NM_000202.8(IDS):c.359C>G (p.Pro120Arg) AND Mucopolysaccharidosis, MPS-II

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 7, 2024
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000790545.2

Allele description [Variation Report for NM_000202.8(IDS):c.359C>G (p.Pro120Arg)]

NM_000202.8(IDS):c.359C>G (p.Pro120Arg)

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.359C>G (p.Pro120Arg)
HGVS:
  • NC_000023.11:g.149503371G>C
  • NG_011900.3:g.6964C>G
  • NM_000202.8:c.359C>GMANE SELECT
  • NM_001166550.4:c.89C>G
  • NM_006123.5:c.359C>G
  • NP_000193.1:p.Pro120Arg
  • NP_001160022.1:p.Pro30Arg
  • NP_006114.1:p.Pro120Arg
  • NC_000023.10:g.148584901G>C
  • NM_000202.7:c.359C>G
  • NR_104128.2:n.528C>G
Protein change:
P120R
Links:
dbSNP: rs193302911
NCBI 1000 Genomes Browser:
rs193302911
Molecular consequence:
  • NM_000202.8:c.359C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001166550.4:c.89C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006123.5:c.359C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104128.2:n.528C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-II (MPS2)
Synonyms:
Mucopolysaccharidosis type 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

Recent activity

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  • RecName: Full=Transcription factor MYC2; Short=AtMYC2; AltName: Full=Basic helix...
    RecName: Full=Transcription factor MYC2; Short=AtMYC2; AltName: Full=Basic helix-loop-helix protein 6; Short=AtbHLH6; Short=bHLH 6; AltName: Full=Protein JASMONATE INSENSITIVE 1; AltName: Full=R-homologous Arabidopsis protein 1; Short=RAP-1; AltName: Full=Transcription factor EN 38; AltName: Full=Z-box binding factor 1 protein; AltName: Full=bHLH transcription factor bHLH006; AltName: Full=rd22BP1
    gi|34222779|sp|Q39204.2|MYC2_ARATH
    Protein

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000929880Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 7, 2024) 		germlineliterature only

PubMed (7)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes6not providednot providednot providednot providedliterature only

Citations

PubMed

Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome).

Bunge S, Steglich C, Zuther C, Beck M, Morris CP, Schwinger E, Schinzel A, Hopwood JJ, Gal A.

Hum Mol Genet. 1993 Nov;2(11):1871-5.

PubMed [citation]
PMID:
8281149

Molecular basis of mucopolysaccharidosis type II: mutations in the iduronate-2-sulphatase gene.

Hopwood JJ, Bunge S, Morris CP, Wilson PJ, Steglich C, Beck M, Schwinger E, Gal A.

Hum Mutat. 1993;2(6):435-42. Review.

PubMed [citation]
PMID:
8111411
See all PubMed Citations (7)

Details of each submission

From Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova, SCV000929880.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided6not providednot providedliterature only PubMed (7)

Description

De novo (PS2_Moderate), Prevalence of the variant significantly increased in affected individuals compared with controls (PS4_Supporting), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Missense variant in a gene with a low rate of benign missense variation (PP2_Supporting), Multiple lines of computational evidence support a deleterious effect (PP3_Supporting), Patient’s phenotype or family history highly specific for the disease (PP4_Strong)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided6not providednot providednot provided

Last Updated: Aug 4, 2024