NM_000046.5(ARSB):c.785dup (p.Asn262fs) 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:
RCV000677596.1

Allele description [Variation Report for NM_000046.5(ARSB):c.785dup (p.Asn262fs)]

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

Gene:
ARSB:arylsulfatase B [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5q14.1
Genomic location:
Preferred name:
NM_000046.5(ARSB):c.785dup (p.Asn262fs)
HGVS:
  • NC_000005.10:g.78955409dup
  • NG_007089.1:g.36127dup
  • NM_000046.5:c.785dupMANE SELECT
  • NM_198709.3:c.785dup
  • NP_000037.2:p.Asn262fs
  • NP_942002.1:p.Asn262fs
  • NC_000005.9:g.78251232dup
  • NM_000046.3:c.785dup
  • NM_000046.4:c.785dup
Protein change:
N262fs
Links:
dbSNP: rs749015246
NCBI 1000 Genomes Browser:
rs749015246
Molecular consequence:
  • NM_000046.5:c.785dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198709.3:c.785dup - 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
SCV000803113Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padovacriteria provided, single submitter
Likely pathogenic
(Jan 1, 2018)
germlinecuration

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

Description

Incorrectly reported by Chistiakov (2014) Clin Chim Acta 436C, 112 as c.785insA

SCV000803113

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

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, SCV000803113.1

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

Description

Frameshift variant (PVS1); Very low frequency in GnomAD (PM2)

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

Last Updated: Nov 27, 2021

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