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NM_000203.5(IDUA):c.617C>A (p.Ser206Ter) AND Mucopolysaccharidosis, MPS-I-H/S

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 22, 2022
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:
RCV002309895.2

Allele description [Variation Report for NM_000203.5(IDUA):c.617C>A (p.Ser206Ter)]

NM_000203.5(IDUA):c.617C>A (p.Ser206Ter)

Gene:
IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000203.5(IDUA):c.617C>A (p.Ser206Ter)
HGVS:
  • NC_000004.12:g.1001706C>A
  • NG_008103.1:g.19710C>A
  • NM_000203.5:c.617C>AMANE SELECT
  • NM_001363576.1:c.221C>A
  • NP_000194.2:p.Ser206Ter
  • NP_001350505.1:p.Ser74Ter
  • LRG_1277t1:c.617C>A
  • LRG_1277:g.19710C>A
  • LRG_1277p1:p.Ser206Ter
  • NC_000004.11:g.995494C>A
  • NR_110313.1:n.705C>A
Protein change:
S206*
Molecular consequence:
  • NR_110313.1:n.705C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000203.5:c.617C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363576.1:c.221C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Mucopolysaccharidosis, MPS-I-H/S
Synonyms:
MUCOPOLYSACCHARIDOSIS TYPE IH/S
Identifiers:
MONDO: MONDO:0011759; MedGen: C0086431; OMIM: 607015

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002603775Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Feb 22, 2022) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002603775.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

NM_000203.3(IDUA):c.617C>A(S206*) is expected to be pathogenic in the context of mucopolysaccharidosis type I. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in IDUA, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Dec 24, 2022