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NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 12, 2017
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:
RCV000675617.7

Allele description [Variation Report for NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln)]

NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln)

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.1856G>A (p.Arg619Gln)
HGVS:
  • NC_000004.12:g.1004287G>A
  • NG_008103.1:g.22291G>A
  • NM_000203.5:c.1856G>AMANE SELECT
  • NM_001363576.1:c.1460G>A
  • NP_000194.2:p.Arg619Gln
  • NP_001350505.1:p.Arg487Gln
  • LRG_1277t1:c.1856G>A
  • LRG_1277:g.22291G>A
  • LRG_1277p1:p.Arg619Gln
  • NC_000004.11:g.998075G>A
  • NM_000203.3:c.1856G>A
  • NM_000203.4:c.1856G>A
  • NR_110313.1:n.1948G>A
Protein change:
R487Q
Links:
dbSNP: rs372137794
NCBI 1000 Genomes Browser:
rs372137794
Molecular consequence:
  • NM_000203.5:c.1856G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363576.1:c.1460G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110313.1:n.1948G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000801315Mayo Clinic Laboratories, Mayo Clinic
no assertion criteria provided
Uncertain significance
(Apr 12, 2017)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000801315.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024