NM_000046.5(ARSB):c.691-22T>C AND Mucopolysaccharidosis type 6

Clinical significance:Benign (Last evaluated: Jun 19, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000677585.3

Allele description [Variation Report for NM_000046.5(ARSB):c.691-22T>C]

NM_000046.5(ARSB):c.691-22T>C

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.691-22T>C
HGVS:
  • NC_000005.10:g.78955524A>G
  • NG_007089.1:g.36011T>C
  • NM_000046.5:c.691-22T>CMANE SELECT
  • NM_198709.3:c.691-22T>C
  • NC_000005.9:g.78251347A>G
  • NM_000046.3:c.691-22T>C
  • NM_000046.4:c.691-22T>C
Links:
dbSNP: rs6870443
NCBI 1000 Genomes Browser:
rs6870443
Molecular consequence:
  • NM_000046.5:c.691-22T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_198709.3:c.691-22T>C - 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
SCV000803102Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padovacriteria provided, single submitter
Benign
(Jan 1, 2018)
germlinecuration

PubMed (3)
[See all records that cite these PMIDs]

SCV001745259Pars Genome Labcriteria provided, single submitter
Benign
(Jun 19, 2021)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mucopolysaccharidosis type VI on enzyme replacement therapy since infancy: Six years follow-up of four children.

Horovitz DDG, Acosta AX, de Rosso Giuliani L, Ribeiro EM.

Mol Genet Metab Rep. 2015 Dec;5:19-25. doi: 10.1016/j.ymgmr.2015.09.002.

PubMed [citation]
PMID:
28649537
PMCID:
PMC5471404

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.

Tomanin R, Karageorgos L, Zanetti A, Al-Sayed M, Bailey M, Miller N, Sakuraba H, Hopwood JJ.

Hum Mutat. 2018 Dec;39(12):1788-1802. doi: 10.1002/humu.23613. Epub 2018 Sep 17. Review.

PubMed [citation]
PMID:
30118150
PMCID:
PMC6282714
See all PubMed Citations (3)

Details of each submission

From Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova, SCV000803102.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (3)

Description

Allele frequency greater than 5% in ExAC (BA1)

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

From Pars Genome Lab, SCV001745259.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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