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NM_000046.5(ARSB):c.247_248del (p.Asp83fs) AND Mucopolysaccharidosis type 6

Germline classification:
Likely 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:
RCV000677524.1

Allele description [Variation Report for NM_000046.5(ARSB):c.247_248del (p.Asp83fs)]

NM_000046.5(ARSB):c.247_248del (p.Asp83fs)

Genes:
LOC129994126:ATAC-STARR-seq lymphoblastoid silent region 16127 [Gene]
ARSB:arylsulfatase B [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5q14.1
Genomic location:
Preferred name:
NM_000046.5(ARSB):c.247_248del (p.Asp83fs)
HGVS:
  • NC_000005.10:g.78985001_78985002del
  • NG_007089.1:g.6533_6534del
  • NM_000046.5:c.247_248delMANE SELECT
  • NM_198709.3:c.247_248del
  • NP_000037.2:p.Asp83fs
  • NP_942002.1:p.Asp83fs
  • NC_000005.9:g.78280824_78280825del
  • NM_000046.4:c.247_248del
Protein change:
D83fs
Links:
dbSNP: rs1554032131
NCBI 1000 Genomes Browser:
rs1554032131
Molecular consequence:
  • NM_000046.5:c.247_248del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_198709.3:c.247_248del - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000803035Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 1, 2018) 		germlinecuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Mucopolysaccharidosis type VI in Russia, Kazakhstan, and Central and Eastern Europe.

Jurecka A, Zakharova E, Cimbalistiene L, Gusina N, Malinova V, Różdżyńska-Świątkowska A, Golda A, Kulpanovich A, Kaldenovna Abdilova G, Voskoboeva E, Tylki-Szymańska A.

Pediatr Int. 2014 Aug;56(4):520-5. doi: 10.1111/ped.12281. Epub 2014 Apr 1.

PubMed [citation]
PMID:
24373060

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, SCV000803035.1

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

Description

Frameshift variant (PVS1); Absent from GnomAD (PM2)

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

Last Updated: Oct 14, 2023