NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jun 13, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000723834.1

Allele description [Variation Report for NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs)]

NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs)

Gene:
ARSA:arylsulfatase A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs)
HGVS:
  • NC_000022.11:g.50625260_50625270del
  • NG_009260.2:g.7913_7923del
  • NM_000487.6:c.1408_1418delMANE SELECT
  • NM_001085425.3:c.1408_1418del
  • NM_001085426.3:c.1408_1418del
  • NM_001085427.3:c.1408_1418del
  • NM_001085428.3:c.1150_1160del
  • NM_001362782.2:c.1150_1160del
  • NP_000478.3:p.Ala470fs
  • NP_001078894.2:p.Ala470fs
  • NP_001078895.2:p.Ala470fs
  • NP_001078896.2:p.Ala470fs
  • NP_001078897.1:p.Ala384fs
  • NP_001349711.1:p.Ala384fs
  • NC_000022.10:g.51063688_51063698del
  • NM_000487.5:c.1408_1418del11
Protein change:
A384fs
Links:
dbSNP: rs80338823
NCBI 1000 Genomes Browser:
rs80338823
Molecular consequence:
  • NM_000487.6:c.1408_1418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001085425.3:c.1408_1418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001085426.3:c.1408_1418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001085427.3:c.1408_1418del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001085428.3:c.1150_1160del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362782.2:c.1150_1160del - 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
SCV000232556EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Jun 13, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000232556.5

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

Last Updated: Sep 29, 2021

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