NM_000046.5(ARSB):c.237_243del (p.Val80fs) 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:
1 submission [Details]
Record status:
current
Accession:
RCV000677520.1

Allele description [Variation Report for NM_000046.5(ARSB):c.237_243del (p.Val80fs)]

NM_000046.5(ARSB):c.237_243del (p.Val80fs)

Gene:
ARSB:arylsulfatase B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q14.1
Genomic location:
Preferred name:
NM_000046.5(ARSB):c.237_243del (p.Val80fs)
HGVS:
  • NC_000005.10:g.78985006_78985012del
  • NG_007089.1:g.6523_6529del
  • NM_000046.5:c.237_243delMANE SELECT
  • NM_198709.3:c.237_243del
  • NP_000037.2:p.Val80fs
  • NP_942002.1:p.Val80fs
  • NC_000005.9:g.78280829_78280835del
  • NM_000046.4:c.237_243del
Protein change:
V80fs
Links:
dbSNP: rs1554032134
NCBI 1000 Genomes Browser:
rs1554032134
Molecular consequence:
  • NM_000046.5:c.237_243del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198709.3:c.237_243del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000803030Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padovacriteria provided, single submitter
Likely pathogenic
(Jan 1, 2018)
germlinecuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

[Identification of mutations in the arylsulfatase B gene in Russian mucopolysaccharidosis type VI patients].

Voskoboeva EIu, Krasnopol'skaia KD, Peters K, von Figura K.

Genetika. 2000 Jun;36(6):837-43. Russian.

PubMed [citation]
PMID:
10923267

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
See all PubMed Citations (4)

Details of each submission

From Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova, SCV000803030.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (4)

Description

Frameshift variant(PVS1); Absent from GnomAD (PM2)

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

Last Updated: Nov 27, 2021

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