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NM_000202.8(IDS):c.257C>T (p.Pro86Leu) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 5, 2018
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:
RCV002458004.2

Allele description [Variation Report for NM_000202.8(IDS):c.257C>T (p.Pro86Leu)]

NM_000202.8(IDS):c.257C>T (p.Pro86Leu)

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.257C>T (p.Pro86Leu)
HGVS:
  • NC_000023.11:g.149503473G>A
  • NG_011900.3:g.6862C>T
  • NM_000202.8:c.257C>TMANE SELECT
  • NM_001166550.4:c.15-28C>T
  • NM_006123.5:c.257C>T
  • NP_000193.1:p.Pro86Leu
  • NP_006114.1:p.Pro86Leu
  • NC_000023.10:g.148585003G>A
  • NM_000202.5:c.257C>T
  • NM_000202.6:c.257C>T
  • NR_104128.2:n.426C>T
Protein change:
P86L
Links:
dbSNP: rs1557340280
NCBI 1000 Genomes Browser:
rs1557340280
Molecular consequence:
  • NM_001166550.4:c.15-28C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000202.8:c.257C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006123.5:c.257C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104128.2:n.426C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002739598Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Pathogenic
(Jun 5, 2018)
germlineclinical testing

PubMed (9)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis.

Sukegawa-Hayasaka K, Kato Z, Nakamura H, Tomatsu S, Fukao T, Kuwata K, Orii T, Kondo N.

J Inherit Metab Dis. 2006 Dec;29(6):755-61. Epub 2006 Nov 7.

PubMed [citation]
PMID:
17091340

Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.

Lampe C, Atherton A, Burton BK, Descartes M, Giugliani R, Horovitz DD, Kyosen SO, Magalhães TS, Martins AM, Mendelsohn NJ, Muenzer J, Smith LD.

JIMD Rep. 2014;14:99-113. doi: 10.1007/8904_2013_289. Epub 2014 Feb 11.

PubMed [citation]
PMID:
24515576
PMCID:
PMC4213327
See all PubMed Citations (9)

Details of each submission

From Ambry Genetics, SCV002739598.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (9)

Description

The p.P86L pathogenic mutation (also known as c.257C>T), located in coding exon 3 of the IDS gene, results from a C to T substitution at nucleotide position 257. The proline at codon 86 is replaced by leucine, an amino acid with a few similar properties. This mutation has been detected in several individuals with Mucopolysaccharidosis type II (MPS II; also called Hunter syndrome) (Popowska E, et al. Hum. Mutat. 1995;5(1):97-100; Vafiadaki E, et al. Arch. Dis. Child. 1998 79(3):237-41; Isogai K, et al. J. Inherit. Metab. Dis. 1998;21(1):60-70; Lampe C et al. JIMD Rep, 2014 Mar;14:99-113; Kosuga M et al. Mol. Genet. Metab., 2016 07;118:190-7), and occurred de novo in at least one individual (Chiong MA et al. Orphanet J Rare Dis, 2017 01;12:7). In addition, several functional studies have shown that this mutation disrupts splicing, resulting in a truncated mRNA product which causes a decrease in IDS enzymatic activity and lysosomal formation (Isogai K, et al. J. Inherit. Metab. Dis. 1998;21(1):60-70; Sukegawa-Hayasaka K, et al. J. Inherit. Metab. Dis. 2006 Dec; 29(6):755-61; Matos L et al. Biochim. Biophys. Acta, 2015 Dec;1852:2712-21; Millat G et al. Biochim. Biophys. Acta, 1998 Mar;1406:214-8). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 20, 2024