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NM_000203.5(IDUA):c.784del (p.His262fs) AND Mucopolysaccharidosis type 1

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 6, 2023
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:
RCV001229775.8

Allele description [Variation Report for NM_000203.5(IDUA):c.784del (p.His262fs)]

NM_000203.5(IDUA):c.784del (p.His262fs)

Gene:
IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000203.5(IDUA):c.784del (p.His262fs)
Other names:
p.His262ThrfsTer5
HGVS:
  • NC_000004.12:g.1001873del
  • NG_008103.1:g.19877del
  • NM_000203.5:c.784delMANE SELECT
  • NM_001363576.1:c.388del
  • NP_000194.2:p.His262fs
  • NP_001350505.1:p.His130fs
  • LRG_1277t1:c.784del
  • LRG_1277:g.19877del
  • LRG_1277p1:p.His262fs
  • NC_000004.11:g.995660del
  • NC_000004.11:g.995661del
  • NM_000203.4:c.784del
  • NR_110313.1:n.872del
Protein change:
H130fs
Links:
dbSNP: rs757928590
NCBI 1000 Genomes Browser:
rs757928590
Molecular consequence:
  • NM_000203.5:c.784del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001363576.1:c.388del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_110313.1:n.872del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Functional consequence:
protein truncation [Variation Ontology: 0015]

Condition(s)

Name:
Mucopolysaccharidosis type 1
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001402231Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Oct 6, 2023) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV002075311Natera, Inc.
no assertion criteria provided
Pathogenic
(Sep 24, 2021) 		germlineclinical testing

Help

Summary from all submissions

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

Citations

PubMed

Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations.

Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, Winchester BG.

Hum Genet. 2001 Nov;109(5):503-11. Epub 2001 Oct 19.

PubMed [citation]
PMID:
11735025

Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis.

Wang X, Zhang W, Shi H, Qiu Z, Meng Y, Yao F, Wei M.

Clin Genet. 2012 May;81(5):443-52. doi: 10.1111/j.1399-0004.2011.01680.x. Epub 2011 May 16. Erratum in: Clin Genet. 2012 May;81(5):501.

PubMed [citation]
PMID:
21480867
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001402231.5

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

Description

This sequence change creates a premature translational stop signal (p.His262Thrfs*55) in the IDUA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IDUA are known to be pathogenic (PMID: 11735025, 21480867). This variant is present in population databases (rs757928590, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type I (PMID: 27146977). ClinVar contains an entry for this variant (Variation ID: 956890). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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

From Natera, Inc., SCV002075311.1

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

Last Updated: Oct 20, 2024