NM_000046.5(ARSB):c.899-1337_1142+1055del AND Mucopolysaccharidosis type 6

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2018
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000677601.1

Allele description [Variation Report for NM_000046.5(ARSB):c.899-1337_1142+1055del]

NM_000046.5(ARSB):c.899-1337_1142+1055del

Gene:

ARSB:arylsulfatase B [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

5q14.1

Genomic location:

Preferred name:

NM_000046.5(ARSB):c.899-1337_1142+1055del

HGVS:

NC_000005.10:g.78884533_78887168del
NG_007089.1:g.104371_107006del
NM_000046.5:c.899-1337_1142+1055delMANE SELECT
NM_198709.3:c.899-1337_1142+1055del
NC_000005.9:g.78180356_78182991del
NM_000046.4:c.899-1341_1142+1051del

Molecular consequence:

NM_000046.5:c.899-1337_1142+1055del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_198709.3:c.899-1337_1142+1055del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_000046.5:c.899-1337_1142+1055del - splice donor variant - [Sequence Ontology: SO:0001575]
NM_198709.3:c.899-1337_1142+1055del - splice donor variant - [Sequence Ontology: SO:0001575]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000803118	Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2018)	germline	curation	PubMed (3) [See all records that cite these PMIDs] 20143913, 25741868, 30118150

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000803118

Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2018)

germline

curation

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Large deletion involving exon 5 of the arylsulfatase B gene caused apparent homozygosity in a mucopolysaccharidosis type VI patient.

Villani GR, Grosso M, Pontarelli G, Chierchia A, Sessa R, Sibilio M, Parenti G, Di Natale P.

Genet Test Mol Biomarkers. 2010 Feb;14(1):113-20. doi: 10.1089/gtmb.2009.0138.

PubMed [citation]

PMID:: 20143913

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, SCV000803118.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (3)

Description

Single exon deletion (PVS1); In vitro functional studies supportive of a damaging effect on the gene product (c.DNA and protein analysis; PS3); Absent from GnomAD (PM2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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