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NM_000203.5(IDUA):c.246C>G (p.His82Gln) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 28, 2017
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:
RCV002453397.9

Allele description [Variation Report for NM_000203.5(IDUA):c.246C>G (p.His82Gln)]

NM_000203.5(IDUA):c.246C>G (p.His82Gln)

Genes:
IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]
SLC26A1:solute carrier family 26 member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000203.5(IDUA):c.246C>G (p.His82Gln)
HGVS:
  • NC_000004.12:g.987896C>G
  • NG_008103.1:g.5900C>G
  • NG_033042.1:g.10541G>C
  • NM_000203.5:c.246C>GMANE SELECT
  • NM_022042.4:c.*937G>CMANE SELECT
  • NM_134425.4:c.576+3232G>C
  • NM_213613.4:c.*937G>C
  • NP_000194.2:p.His82Gln
  • LRG_1277t1:c.246C>G
  • LRG_1277:g.5900C>G
  • LRG_1277p1:p.His82Gln
  • NC_000004.11:g.981684C>G
  • NM_000203.3:c.246C>G
  • NM_000203.4:c.246C>G
  • NR_110313.1:n.334C>G
  • P35475:p.His82Gln
Protein change:
H82Q
Links:
UniProtKB: P35475#VAR_020976; dbSNP: rs148775298
NCBI 1000 Genomes Browser:
rs148775298
Molecular consequence:
  • NM_022042.4:c.*937G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_213613.4:c.*937G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_134425.4:c.576+3232G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000203.5:c.246C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110313.1:n.334C>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
SCV002736213Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Likely benign
(Dec 28, 2017)
germlineclinical testing

PubMed (4)
[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

Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.

Yogalingam G, Guo XH, Muller VJ, Brooks DA, Clements PR, Kakkis ED, Hopwood JJ.

Hum Mutat. 2004 Sep;24(3):199-207.

PubMed [citation]
PMID:
15300847

Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry.

Scott CR, Elliott S, Buroker N, Thomas LI, Keutzer J, Glass M, Gelb MH, Turecek F.

J Pediatr. 2013 Aug;163(2):498-503. doi: 10.1016/j.jpeds.2013.01.031. Epub 2013 Mar 1.

PubMed [citation]
PMID:
23465405
PMCID:
PMC3725184
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002736213.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Jul 23, 2024