NM_000046.5(ARSB):c.785dup (p.Asn262fs) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Nov 30, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001597200.1

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)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001832322Blueprint Geneticscriteria provided, single submitter
Likely pathogenic
(Nov 30, 2019)
germlineclinical testing

Citation Link

Description

Patient analyzed with Comprehensive Skeletal Dysplasias and Disorders Panel

SCV001832322

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001832322.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 6, 2021

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