NM_000046.5(ARSB):c.571C>T (p.Arg191Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Nov 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000579053.1

Allele description [Variation Report for NM_000046.5(ARSB):c.571C>T (p.Arg191Ter)]

NM_000046.5(ARSB):c.571C>T (p.Arg191Ter)

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.571C>T (p.Arg191Ter)
HGVS:
  • NC_000005.10:g.78964535G>A
  • NG_007089.1:g.27000C>T
  • NM_000046.5:c.571C>TMANE SELECT
  • NM_198709.3:c.571C>T
  • NP_000037.2:p.Arg191Ter
  • NP_942002.1:p.Arg191Ter
  • NC_000005.9:g.78260358G>A
  • NM_000046.3:c.571C>T
  • NM_000046.4:c.571C>T
Protein change:
R191*
Links:
dbSNP: rs371886102
NCBI 1000 Genomes Browser:
rs371886102
Molecular consequence:
  • NM_000046.5:c.571C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_198709.3:c.571C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000680500GeneDxcriteria provided, single submitter
Pathogenic
(Nov 1, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000680500.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The R191X variant in the ARSB gene has been reported previously in the homozygous and the heterozygous state, in the presence of a second ARSB variant, in association with MPS VI (Karageorgos et al., 2007; Kılıç et al., 2017). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R191X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R191X as a pathogenic variant.

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

Last Updated: Oct 8, 2021

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