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NM_000203.5(IDUA):c.246C>G (p.His82Gln) AND Mucopolysaccharidosis type 1

Germline classification:
Uncertain significance; other (3 submissions)
Last evaluated:
Dec 31, 2018
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000208604.19

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:
Mucopolysaccharidosis type 1 (MPS1)
Synonyms:
Mucopolysaccharidosis type I; MPS 1; Attenuated MPS I (subtype); See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0001586; MedGen: C0023786

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000264373GeneReviews
no classification provided
not providedgermlineliterature only

SCV000627149Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
other
(Dec 31, 2018)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001317786Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)
Uncertain significance
(Apr 27, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, literature only

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From GeneReviews, SCV000264373.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

Pseudodeficiency variants

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

From Invitae, SCV000627149.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Illumina Laboratory Services, Illumina, SCV001317786.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Jul 15, 2024