NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) 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:
RCV000677611.3

Allele description [Variation Report for NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)]

NM_000046.5(ARSB):c.943C>T (p.Arg315Ter)

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.943C>T (p.Arg315Ter)
HGVS:
  • NC_000005.10:g.78885783G>A
  • NG_007089.1:g.105752C>T
  • NM_000046.5:c.943C>TMANE SELECT
  • NM_198709.3:c.943C>T
  • NP_000037.2:p.Arg315Ter
  • NP_942002.1:p.Arg315Ter
  • NC_000005.9:g.78181606G>A
  • NM_000046.4:c.943C>T
Protein change:
R315*
Links:
dbSNP: rs891298440
NCBI 1000 Genomes Browser:
rs891298440
Molecular consequence:
  • NM_000046.5:c.943C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198709.3:c.943C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000803128Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padovacriteria provided, single submitter
Likely pathogenic
(Jan 1, 2018)
germlinecuration

PubMed (8)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.

Chistiakov DA, Savost'anov KV, Kuzenkova LM, Gevorkyan AK, Pushkov AA, Nikitin AG, Pakhomov AV, Vashakmadze ND, Zhurkova NV, Podkletnova TV, Mayansky NA, Namazova-Baranova LS, Baranov AA.

Clin Chim Acta. 2014 Sep 25;436:112-20. doi: 10.1016/j.cca.2014.05.010. Epub 2014 May 26.

PubMed [citation]
PMID:
24875751

Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.

Ferla R, Claudiani P, Savarese M, Kozarsky K, Parini R, Scarpa M, Donati MA, Sorge G, Hopwood JJ, Parenti G, Fecarotta S, Nigro V, Sivri HS, Van Der Ploeg A, Andria G, Brunetti-Pierri N, Auricchio A.

Hum Gene Ther. 2015 Mar;26(3):145-52. doi: 10.1089/hum.2014.109.

PubMed [citation]
PMID:
25654180
PMCID:
PMC4367235
See all PubMed Citations (8)

Details of each submission

From Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova, SCV000803128.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (8)

Description

Nonsense variant (PVS1); Very low frequency in ExAC (PM2)

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

Last Updated: Nov 27, 2021

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