NM_000046.5(ARSB):c.743del (p.Pro248fs) AND Mucopolysaccharidosis type 6

Clinical significance: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:
RCV000677591.1

Allele description [Variation Report for NM_000046.5(ARSB):c.743del (p.Pro248fs)]

NM_000046.5(ARSB):c.743del (p.Pro248fs)

Gene:
ARSB:arylsulfatase B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q14.1
Genomic location:
Preferred name:
NM_000046.5(ARSB):c.743del (p.Pro248fs)
HGVS:
  • NC_000005.10:g.78955452del
  • NG_007089.1:g.36085del
  • NM_000046.5:c.743delMANE SELECT
  • NM_198709.3:c.743del
  • NP_000037.2:p.Pro248fs
  • NP_942002.1:p.Pro248fs
  • NC_000005.9:g.78251275del
  • NM_000046.3:c.743del
  • NM_000046.4:c.743del
Protein change:
P248fs
Links:
OMIM: 611542.0006; dbSNP: rs431905494
NCBI 1000 Genomes Browser:
rs431905494
Molecular consequence:
  • NM_000046.5:c.743del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198709.3:c.743del - 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
SCV000803108Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padovacriteria provided, single submitter
Pathogenic
(Jan 1, 2018)
germlinecuration

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Two novel frameshift mutations causing premature stop codons in a patient with the severe form of Maroteaux-Lamy syndrome.

Isbrandt D, Hopwood JJ, von Figura K, Peters C.

Hum Mutat. 1996;7(4):361-3. No abstract available.

PubMed [citation]
PMID:
8723688

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753
See all PubMed Citations (3)

Details of each submission

From Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova, SCV000803108.1

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

Description

Frameshift variant (PVS1); Absent from GnomAD (PM2);Reputable source identifies as pathogenic (PP5)

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

Last Updated: Oct 7, 2021

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