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NM_000046.5(ARSB):c.785dup (p.Asn262fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 1, 2021)
Last evaluated:
Nov 30, 2019
Accession:
VCV000559813.2
Variation ID:
559813
Description:
1bp duplication
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NM_000046.5(ARSB):c.785dup (p.Asn262fs)

Allele ID
550465
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78955407-78955408 (GRCh38) GRCh38 UCSC
5: 78251230-78251231 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.78955409dup
NC_000005.9:g.78251232dup
NG_007089.1:g.36127dup
... more HGVS
Protein change
N262fs
Other names
-
Canonical SPDI
NC_000005.10:78955407:TT:TTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs749015246
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 1, 2018 RCV000677596.1
Likely pathogenic 1 criteria provided, single submitter Nov 30, 2019 RCV001597200.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ARSB - - GRCh38
GRCh37
570 583

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 01, 2018)
criteria provided, single submitter
Method: curation
Mucopolysaccharidosis type 6
Allele origin: germline
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova
Accession: SCV000803113.1
Submitted: (Apr 17, 2018)
Comment:
Incorrectly reported by Chistiakov (2014) Clin Chim Acta 436C, 112 as c.785insA
Evidence details
Publications
PubMed (2)
Comment:
Frameshift variant (PVS1); Very low frequency in GnomAD (PM2)
Likely pathogenic
(Nov 30, 2019)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Blueprint Genetics
Accession: SCV001832322.1
Submitted: (Sep 01, 2021)
Comment:
Patient analyzed with Comprehensive Skeletal Dysplasias and Disorders Panel
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene. Tomanin R Human mutation 2018 PMID: 30118150
Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia. Chistiakov DA Clinica chimica acta; international journal of clinical chemistry 2014 PMID: 24875751

Text-mined citations for rs749015246...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021