NM_000046.5(ARSB):c.1143-8T>G AND Mucopolysaccharidosis type 6

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000000936.7

Allele description [Variation Report for NM_000046.5(ARSB):c.1143-8T>G]

NM_000046.5(ARSB):c.1143-8T>G

Gene:
ARSB:arylsulfatase B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q14.1
Genomic location:
Preferred name:
NM_000046.5(ARSB):c.1143-8T>G
HGVS:
  • NC_000005.10:g.78839434A>C
  • NG_007089.1:g.152101T>G
  • NM_000046.5:c.1143-8T>GMANE SELECT
  • NM_198709.3:c.1143-8T>G
  • NC_000005.9:g.78135257A>C
  • NM_000046.3:c.1143-8T>G
  • NM_000046.4:c.1143-8T>G
Nucleotide change:
IVS5AS, T-G, -8
Links:
OMIM: 611542.0012; dbSNP: rs431905496
NCBI 1000 Genomes Browser:
rs431905496
Molecular consequence:
  • NM_000046.5:c.1143-8T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198709.3:c.1143-8T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Mucopolysaccharidosis type 6 (MPS6)
Synonyms:
MPS VI; Mucopolysaccharidosis type VI; MPS 6; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009661; MedGen: C0026709; Orphanet: 583; OMIM: 253200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021086OMIMno assertion criteria providedPathogenic
(Sep 1, 2007)
germlineliterature only

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

SCV000802959Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padovacriteria provided, single submitter
Likely pathogenic
(Jan 1, 2018)
germlinecuration

PubMed (10)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.

Garrido E, Chabás A, Coll MJ, Blanco M, Domínguez C, Grinberg D, Vilageliu L, Cormand B.

Mol Genet Metab. 2007 Sep-Oct;92(1-2):122-30. Epub 2007 Jul 20.

PubMed [citation]
PMID:
17643332

Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene.

Garrido E, Cormand B, Hopwood JJ, Chabás A, Grinberg D, Vilageliu L.

Mol Genet Metab. 2008 Jul;94(3):305-12. doi: 10.1016/j.ymgme.2008.02.012. Epub 2008 Apr 10.

PubMed [citation]
PMID:
18406185
See all PubMed Citations (10)

Details of each submission

From OMIM, SCV000021086.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Garrido et al. (2007) identified a T-to-G transversion in intron 5 of the ARSB gene (1143-8T-G) in 12.5% of mutant alleles from 16 Spanish and Argentinian patients with mucopolysaccharidosis type VI (MPS6; 253200). RT-PCR analysis showed that the mutation resulted in the skipping of exon 6 and premature termination. Haplotype analysis indicated a founder effect.

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

From Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova, SCV000802959.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (10)

Description

In vitro functional studies supportive of a damaging effect on the gene product (demonstrated nonsense mediated RNA decay; low to no ARSB activity in homozygotes; PS3); Very low frequency in ExAC (PM2); Multiple lines of computational evidence support a deleterious effect on the gene product (PP3); Reputable source identifies as pathogenic (PP5)

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

Last Updated: Nov 27, 2021

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