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NM_000487.6(ARSA):c.609_610del (p.Met204fs) AND Metachromatic leukodystrophy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 3, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002309075.2

Allele description [Variation Report for NM_000487.6(ARSA):c.609_610del (p.Met204fs)]

NM_000487.6(ARSA):c.609_610del (p.Met204fs)

Gene:
ARSA:arylsulfatase A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_000487.6(ARSA):c.609_610del (p.Met204fs)
HGVS:
  • NC_000022.11:g.50626909_50626910del
  • NG_009260.2:g.6271_6272del
  • NM_000487.6:c.609_610delMANE SELECT
  • NM_001085425.3:c.609_610del
  • NM_001085426.3:c.609_610del
  • NM_001085427.3:c.609_610del
  • NM_001085428.3:c.351_352del
  • NM_001362782.2:c.351_352del
  • NP_000478.3:p.Met204fs
  • NP_001078894.2:p.Met204fs
  • NP_001078895.2:p.Met204fs
  • NP_001078896.2:p.Met204fs
  • NP_001078897.1:p.Met118fs
  • NP_001349711.1:p.Met118fs
  • NC_000022.10:g.51065337_51065338del
Protein change:
M118fs
Molecular consequence:
  • NM_000487.6:c.609_610del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001085425.3:c.609_610del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001085426.3:c.609_610del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001085427.3:c.609_610del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001085428.3:c.351_352del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001362782.2:c.351_352del - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002602884Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2021))		Likely pathogenic
(Dec 3, 2021) 		unknownclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV002602884.2

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

Description

NM_000487.5(ARSA):c.609_610delCA(M204Gfs*5) is expected to be pathogenic in the context of metachromatic leukodystrophy. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ARSA, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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

Last Updated: Dec 24, 2022