NM_000487.6(ARSA):c.684+2dup AND Metachromatic leukodystrophy

Clinical significance:Uncertain significance (Last evaluated: Mar 14, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000673398.1

Allele description [Variation Report for NM_000487.6(ARSA):c.684+2dup]

NM_000487.6(ARSA):c.684+2dup

Gene:
ARSA:arylsulfatase A [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_000487.6(ARSA):c.684+2dup
HGVS:
  • NC_000022.11:g.50626832dup
  • NG_009260.2:g.6348dup
  • NM_000487.6:c.684+2dupMANE SELECT
  • NM_001085425.3:c.684+2dup
  • NM_001085426.3:c.684+2dup
  • NM_001085427.3:c.684+2dup
  • NM_001085428.3:c.426+2dup
  • NM_001362782.2:c.426+2dup
  • NC_000022.10:g.51065260dup
  • NM_000487.5:c.684+2dupT
Links:
dbSNP: rs1555900843
NCBI 1000 Genomes Browser:
rs1555900843
Molecular consequence:
  • NM_000487.6:c.684+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001085425.3:c.684+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001085426.3:c.684+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001085427.3:c.684+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001085428.3:c.426+2dup - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001362782.2:c.426+2dup - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000798596Counsylcriteria provided, single submitter
Uncertain significance
(Mar 14, 2018)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000798596.1

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

Last Updated: Nov 27, 2021

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