NM_000046.5(ARSB):c.245del (p.Leu82fs) 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:
RCV000677522.1

Allele description [Variation Report for NM_000046.5(ARSB):c.245del (p.Leu82fs)]

NM_000046.5(ARSB):c.245del (p.Leu82fs)

Gene:
ARSB:arylsulfatase B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q14.1
Genomic location:
Preferred name:
NM_000046.5(ARSB):c.245del (p.Leu82fs)
HGVS:
  • NC_000005.10:g.78985004del
  • NG_007089.1:g.6531del
  • NM_000046.5:c.245delMANE SELECT
  • NM_198709.3:c.245del
  • NP_000037.2:p.Leu82fs
  • NP_942002.1:p.Leu82fs
  • NC_000005.9:g.78280827del
  • NM_000046.4:c.245del
Protein change:
L82fs
Links:
dbSNP: rs750845916
NCBI 1000 Genomes Browser:
rs750845916
Molecular consequence:
  • NM_000046.5:c.245del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198709.3:c.245del - 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
SCV000803032Laboratory 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

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

Karageorgos L, Brooks DA, Pollard A, Melville EL, Hein LK, Clements PR, Ketteridge D, Swiedler SJ, Beck M, Giugliani R, Harmatz P, Wraith JE, Guffon N, Leão Teles E, Sá Miranda MC, Hopwood JJ.

Hum Mutat. 2007 Sep;28(9):897-903.

PubMed [citation]
PMID:
17458871
See all PubMed Citations (4)

Details of each submission

From Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova, SCV000803032.1

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

Description

Frameshift variant (PVS1); Very low frequence in GnomAd (PM2)

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

Last Updated: Nov 27, 2021

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