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NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) AND Arylsulfatase a pseudodeficiency, intermediate

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 1994
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000003230.11

Allele description [Variation Report for NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)]

NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)

Gene:
ARSA:arylsulfatase A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.33
Genomic location:
Preferred name:
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)
Other names:
E382K
HGVS:
  • NC_000022.11:g.50625639C>T
  • NG_009260.2:g.7541G>A
  • NM_000487.6:c.1150G>AMANE SELECT
  • NM_001085425.3:c.1150G>A
  • NM_001085426.3:c.1150G>A
  • NM_001085427.3:c.1150G>A
  • NM_001085428.3:c.892G>A
  • NM_001362782.2:c.892G>A
  • NP_000478.3:p.Glu384Lys
  • NP_000478.3:p.Glu384Lys
  • NP_001078894.2:p.Glu384Lys
  • NP_001078895.2:p.Glu384Lys
  • NP_001078896.2:p.Glu384Lys
  • NP_001078897.1:p.Glu298Lys
  • NP_001349711.1:p.Glu298Lys
  • NC_000022.10:g.51064067C>T
  • NM_000487.5:c.1150G>A
Protein change:
E298K; GLU382LYS
Links:
OMIM: 607574.0036; dbSNP: rs74315479
NCBI 1000 Genomes Browser:
rs74315479
Molecular consequence:
  • NM_000487.6:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085425.3:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085426.3:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085427.3:c.1150G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085428.3:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362782.2:c.892G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Name:
Arylsulfatase a pseudodeficiency, intermediate
Identifiers:
MedGen: C4017096

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000023388OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 1994) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Frequency of arylsulphatase A pseudodeficiency associated mutations in a healthy population.

Barth ML, Ward C, Harris A, Saad A, Fensom A.

J Med Genet. 1994 Sep;31(9):667-71.

PubMed [citation]
PMID:
7815433
PMCID:
PMC1050073

Details of each submission

From OMIM, SCV000023388.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In Caucasian patients with intermediate arylsulfatase A pseudodeficiency (250100), Barth et al. (1994) identified a G-to-A substitution of the ARSA gene changing a glutamic acid to lysine at position 382 in exon 7.

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

Last Updated: Nov 24, 2024