NM_000487.6(ARSA):c.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly) AND Metachromatic leukodystrophy

Clinical significance:Likely pathogenic (Last evaluated: Dec 30, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000761490.1

Allele description [Variation Report for NM_000487.6(ARSA):c.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly)]

NM_000487.6(ARSA):c.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly)

Gene:
ARSA:arylsulfatase A [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_000487.6(ARSA):c.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly)
HGVS:
  • NC_000022.11:g.50627257_50627262delinsCCCAAGGTT
  • NG_009260.2:g.5918_5923delinsAACCTTGGG
  • NM_000487.6:c.369_374delinsAACCTTGGGMANE SELECT
  • NM_001085425.3:c.369_374delinsAACCTTGGG
  • NM_001085426.3:c.369_374delinsAACCTTGGG
  • NM_001085427.3:c.369_374delinsAACCTTGGG
  • NM_001085428.3:c.111_116delinsAACCTTGGG
  • NM_001362782.2:c.111_116delinsAACCTTGGG
  • NP_000478.3:p.Gly124_Lys125delinsThrLeuGly
  • NP_001078894.2:p.Gly124_Lys125delinsThrLeuGly
  • NP_001078895.2:p.Gly124_Lys125delinsThrLeuGly
  • NP_001078896.2:p.Gly124_Lys125delinsThrLeuGly
  • NP_001078897.1:p.Gly38_Lys39delinsThrLeuGly
  • NP_001349711.1:p.Gly38_Lys39delinsThrLeuGly
  • NC_000022.10:g.51065685_51065690delinsCCCAAGGTT
  • NM_000487.3:c.363_368delinsAACCTTGGG
  • NM_000487.5:c.369_374delCGGCAAinsAACCTTGGG
Links:
dbSNP: rs786200965
NCBI 1000 Genomes Browser:
rs786200965
Molecular consequence:
  • NM_000487.6:c.369_374delinsAACCTTGGG - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001085425.3:c.369_374delinsAACCTTGGG - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001085426.3:c.369_374delinsAACCTTGGG - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001085427.3:c.369_374delinsAACCTTGGG - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001085428.3:c.111_116delinsAACCTTGGG - inframe_indel - [Sequence Ontology: SO:0001820]
  • NM_001362782.2:c.111_116delinsAACCTTGGG - inframe_indel - [Sequence Ontology: SO:0001820]

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
SCV000891606Department of Genetics,Sultan Qaboos University Hospital, Omancriteria provided, single submitter
Likely pathogenic
(Dec 30, 2017)
unknowncuration

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Department of Genetics,Sultan Qaboos University Hospital, Oman, SCV000891606.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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