NM_000046.5(ARSB):c.750_754delinsCCTGAAG (p.Glu250fs) 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:
RCV000677592.1

Allele description [Variation Report for NM_000046.5(ARSB):c.750_754delinsCCTGAAG (p.Glu250fs)]

NM_000046.5(ARSB):c.750_754delinsCCTGAAG (p.Glu250fs)

Gene:
ARSB:arylsulfatase B [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
5q14.1
Genomic location:
Preferred name:
NM_000046.5(ARSB):c.750_754delinsCCTGAAG (p.Glu250fs)
HGVS:
  • NC_000005.10:g.78955439_78955443delinsCTTCAGG
  • NG_007089.1:g.36092_36096delinsCCTGAAG
  • NM_000046.5:c.750_754delinsCCTGAAGMANE SELECT
  • NM_198709.3:c.750_754delinsCCTGAAG
  • NP_000037.2:p.Glu250fs
  • NP_942002.1:p.Glu250fs
  • NC_000005.9:g.78251262_78251266delinsCTTCAGG
Protein change:
E250fs
Links:
dbSNP: rs1554086417
NCBI 1000 Genomes Browser:
rs1554086417
Molecular consequence:
  • NM_000046.5:c.750_754delinsCCTGAAG - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198709.3:c.750_754delinsCCTGAAG - 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
SCV000803109Laboratory 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]

Description

Incorrectly reported by Jurecka (2011) Cent Eur J Med 6,163 as c.31091insCCTGAAG_delATACT. The reference sequence used by Jurecka likely is NC_000005.9

SCV000803109

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype.

Jurecka A, Golda A, Opoka-Winiarska V, Piotrowska E, Tylki-Szymańska A.

Mol Genet Metab. 2011 Dec;104(4):695-9. doi: 10.1016/j.ymgme.2011.08.024. Epub 2011 Aug 27.

PubMed [citation]
PMID:
21917494

Molecular analysis of mucopolysaccharidosis type VI in Poland, Belarus, Lithuania and Estonia.

Jurecka A, Piotrowska E, Cimbalistiene L, Gusina N, Sobczyńska A, Czartoryska B, Czerska K, Õunap K, Węgrzyn G, Tylki-Szymańska A.

Mol Genet Metab. 2012 Feb;105(2):237-43. doi: 10.1016/j.ymgme.2011.11.003. Epub 2011 Nov 11.

PubMed [citation]
PMID:
22133300
See all PubMed Citations (4)

Details of each submission

From Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova, SCV000803109.1

#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: Oct 7, 2021

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