NM_000487.6(ARSA):c.585G>T (p.Trp195Cys) AND not provided

Clinical significance:Benign (Last evaluated: Mar 3, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000675751.3

Allele description [Variation Report for NM_000487.6(ARSA):c.585G>T (p.Trp195Cys)]

NM_000487.6(ARSA):c.585G>T (p.Trp195Cys)

Gene:
ARSA:arylsulfatase A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys)
HGVS:
  • NC_000022.11:g.50626933C>A
  • NG_009260.2:g.6247G>T
  • NM_000487.6:c.585G>TMANE SELECT
  • NM_001085425.3:c.585G>T
  • NM_001085426.3:c.585G>T
  • NM_001085427.3:c.585G>T
  • NM_001085428.3:c.327G>T
  • NM_001362782.2:c.327G>T
  • NP_000478.3:p.Trp195Cys
  • NP_000478.3:p.Trp195Cys
  • NP_000478.3:p.Trp195Cys
  • NP_001078894.2:p.Trp195Cys
  • NP_001078895.2:p.Trp195Cys
  • NP_001078896.2:p.Trp195Cys
  • NP_001078897.1:p.Trp109Cys
  • NP_001349711.1:p.Trp109Cys
  • NC_000022.10:g.51065361C>A
  • NM_000487.5:c.585G>T
Protein change:
W109C
Links:
dbSNP: rs6151415
NCBI 1000 Genomes Browser:
rs6151415
Molecular consequence:
  • NM_000487.6:c.585G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085425.3:c.585G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085426.3:c.585G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085427.3:c.585G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085428.3:c.327G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362782.2:c.327G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000801470Mayo Clinic Laboratories, Mayo Clinicno assertion criteria providedBenign
(Jul 25, 2017)
unknownclinical testing

SCV001843975GeneDxcriteria provided, single submitter
Benign
(Mar 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000801470.1

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

From GeneDx, SCV001843975.1

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

Description

This variant is associated with the following publications: (PMID: 31836585, 28670130, 8897113)

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

Last Updated: Oct 16, 2021

Support Center