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NM_000203.5(IDUA):c.557A>G (p.His186Arg) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 28, 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:
RCV004619596.1

Allele description [Variation Report for NM_000203.5(IDUA):c.557A>G (p.His186Arg)]

NM_000203.5(IDUA):c.557A>G (p.His186Arg)

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.557A>G (p.His186Arg)
HGVS:
  • NC_000004.12:g.1001531A>G
  • NG_008103.1:g.19535A>G
  • NM_000203.5:c.557A>GMANE SELECT
  • NM_001363576.1:c.161A>G
  • NP_000194.2:p.His186Arg
  • NP_001350505.1:p.His54Arg
  • LRG_1277t1:c.557A>G
  • LRG_1277:g.19535A>G
  • LRG_1277p1:p.His186Arg
  • NC_000004.11:g.995319A>G
  • NM_000203.3:c.557A>G
  • NR_110313.1:n.645A>G
Protein change:
H186R
Links:
dbSNP: rs758439259
NCBI 1000 Genomes Browser:
rs758439259
Molecular consequence:
  • NM_000203.5:c.557A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363576.1:c.161A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110313.1:n.645A>G - 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
SCV005121529Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Apr 28, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005121529.1

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

Description

The p.H186R variant (also known as c.557A>G), located in coding exon 5 of the IDUA gene, results from an A to G substitution at nucleotide position 557. The histidine at codon 186 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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

Last Updated: Sep 29, 2024