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NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del) AND Hurler syndrome

Germline classification:
no classifications from unflagged records (1 submission)
Last evaluated:
Jun 11, 2024
Review status:
no classifications from unflagged records
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:
RCV000673377.2

Allele description [Variation Report for NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)]

NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)

Gene:
IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
4p16.3
Genomic location:
Preferred name:
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)
HGVS:
  • NC_000004.12:g.1002369_1002389del
  • NG_008103.1:g.20373_20393del
  • NM_000203.5:c.1073_1093delMANE SELECT
  • NM_001363576.1:c.677_697del
  • NP_000194.2:p.His358_Thr364del
  • NP_001350505.1:p.His226_Thr232del
  • LRG_1277t1:c.1073_1093del
  • LRG_1277:g.20373_20393del
  • LRG_1277p1:p.His358_Thr364del
  • NC_000004.11:g.996154_996174del
  • NC_000004.11:g.996157_996177del
  • NM_000203.3:c.1073_1093del21
  • NR_110313.1:n.1161_1181del
Links:
dbSNP: rs1214495121
NCBI 1000 Genomes Browser:
rs1214495121
Molecular consequence:
  • NM_000203.5:c.1073_1093del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001363576.1:c.677_697del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NR_110313.1:n.1161_1181del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hurler syndrome
Synonyms:
MUCOPOLYSACCHARIDOSIS TYPE IH; Gargoylism, Hurler Syndrome
Identifiers:
MONDO: MONDO:0011758; MedGen: C0086795; OMIM: 607014

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Assertion and evidence details

Help
No clinical assertions found. See "Flagged submissions" below.
Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000798574.1

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

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000798574Counsyl
flagged submission
Reason: Outlier claim with insufficient supporting evidence
Notes: None

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Mar 14, 2018) 		unknownclinical testing

Citation Link

Last Updated: Oct 8, 2024