NM_000046.5(ARSB):c.290A>G (p.Gln97Arg) AND Mucopolysaccharidosis type 6

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000256474.2

Allele description [Variation Report for NM_000046.5(ARSB):c.290A>G (p.Gln97Arg)]

NM_000046.5(ARSB):c.290A>G (p.Gln97Arg)

Gene:
ARSB:arylsulfatase B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q14.1
Genomic location:
Preferred name:
NM_000046.5(ARSB):c.290A>G (p.Gln97Arg)
HGVS:
  • NC_000005.10:g.78984959T>C
  • NG_007089.1:g.6576A>G
  • NM_000046.5:c.290A>GMANE SELECT
  • NM_198709.3:c.290A>G
  • NP_000037.2:p.Gln97Arg
  • NP_942002.1:p.Gln97Arg
  • NC_000005.9:g.78280782T>C
  • NM_000046.3:c.290A>G
Protein change:
Q97R
Links:
dbSNP: rs886039914
NCBI 1000 Genomes Browser:
rs886039914
Molecular consequence:
  • NM_000046.5:c.290A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198709.3:c.290A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000323256Diagnostics Division,CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICSno assertion criteria providedLikely pathogenicde novoclinical testing

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1not providedclinical testing

Details of each submission

From Diagnostics Division,CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS, SCV000323256.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providedassert pathogenicity1not providednot providednot provided

Last Updated: Nov 27, 2021

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