NM_000487.6(ARSA):c.*1062dup AND Metachromatic leukodystrophy

Clinical significance:Uncertain significance (Last evaluated: Jun 14, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000316732.2

Allele description [Variation Report for NM_000487.6(ARSA):c.*1062dup]

NM_000487.6(ARSA):c.*1062dup

Gene:
ARSA:arylsulfatase A [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_000487.6(ARSA):c.*1062dup
HGVS:
  • NC_000022.11:g.50624088dup
  • NG_009260.2:g.9097dup
  • NM_000487.6:c.*1062dupMANE SELECT
  • NM_001085425.3:c.*1062dup
  • NM_001085426.3:c.*1062dup
  • NM_001085427.3:c.*1062dup
  • NM_001085428.3:c.*1062dup
  • NM_001362782.2:c.*1062dup
  • NC_000022.10:g.51062516dup
  • NM_000487.5:c.*1062dupA
Links:
dbSNP: rs763817529
NCBI 1000 Genomes Browser:
rs763817529
Molecular consequence:
  • NM_000487.6:c.*1062dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001085425.3:c.*1062dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001085426.3:c.*1062dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001085427.3:c.*1062dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001085428.3:c.*1062dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001362782.2:c.*1062dup - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Metachromatic leukodystrophy (MLD)
Synonyms:
Metachromatic leukoencephalopathy; Sulfatide lipidosis; Cerebral sclerosis diffuse metachromatic form; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018868; MedGen: C0023522; Orphanet: 512; OMIM: 250100

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000439403Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000439403.2

#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: Nov 27, 2021

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