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

Clinical significance:Pathogenic (Last evaluated: Aug 25, 2011)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000180166.4

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)

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
SCV000040690GeneReviewsno assertion criteria providedpathologic
(Aug 25, 2011)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000040690.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 29, 2021

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