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NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) AND IDUA-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 18, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003398488.6

Allele description [Variation Report for NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)]

NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)

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.1205G>A (p.Trp402Ter)
HGVS:
  • NC_000004.12:g.1002747G>A
  • NG_008103.1:g.20751G>A
  • NM_000203.5:c.1205G>AMANE SELECT
  • NM_001363576.1:c.809G>A
  • NP_000194.2:p.Trp402Ter
  • NP_000194.2:p.Trp402Ter
  • NP_001350505.1:p.Trp270Ter
  • LRG_1277t1:c.1205G>A
  • LRG_1277:g.20751G>A
  • LRG_1277p1:p.Trp402Ter
  • NC_000004.11:g.996535G>A
  • NM_000203.3:c.1205G>A
  • NM_000203.4(IDUA):c.1205G>A
  • NM_000203.4:c.1205G>A
  • NP_000194.2:p.Trp402*
  • NR_110313.1:n.1293G>A
  • p.Trp402X
Protein change:
W270*; TRP402TER
Links:
OMIM: 252800.0001; dbSNP: rs121965019
NCBI 1000 Genomes Browser:
rs121965019
Molecular consequence:
  • NR_110313.1:n.1293G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000203.5:c.1205G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001363576.1:c.809G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
IDUA-related disorder
Synonyms:
IDUA-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004110155PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jun 18, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004110155.3

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

Description

The IDUA c.1205G>A variant is predicted to result in premature protein termination (p.Trp402*). This variant has been repeatedly reported to be pathogenic for mucopolysaccharidosis type I (Scott et al. 1992. PubMed ID: 1301196; Pollard et al. 2013. PubMed ID: 22976768; Ahmed et al. 2014. PubMed ID: 24368159; Bush et al. 2019. PubMed ID: PMID: 29654546; Cospain et al. 2020. PubMed ID: 32670797). This variant is reported in 0.14% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Nonsense variants in IDUA gene are expected to be pathogenic. In summary, we classify this variant as pathogenic.

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

Last Updated: Nov 24, 2024