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NM_000487.6(ARSA):c.946G>A (p.Ala316Thr) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000058999.1

Allele description [Variation Report for NM_000487.6(ARSA):c.946G>A (p.Ala316Thr)]

NM_000487.6(ARSA):c.946G>A (p.Ala316Thr)

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.946G>A (p.Ala316Thr)
HGVS:
  • NC_000022.11:g.50626187C>T
  • NG_009260.2:g.6993G>A
  • NM_000487.6:c.946G>AMANE SELECT
  • NM_001085425.3:c.946G>A
  • NM_001085426.3:c.946G>A
  • NM_001085427.3:c.946G>A
  • NM_001085428.3:c.688G>A
  • NM_001362782.2:c.688G>A
  • NP_000478.3:p.Ala316Thr
  • NP_001078894.2:p.Ala316Thr
  • NP_001078895.2:p.Ala316Thr
  • NP_001078896.2:p.Ala316Thr
  • NP_001078897.1:p.Ala230Thr
  • NP_001349711.1:p.Ala230Thr
  • NC_000022.10:g.51064615C>T
  • NM_000487.5:c.946G>A
Protein change:
A230T
Links:
UniProtKB/Swiss-Prot: VAR_007276; dbSNP: rs199476368
NCBI 1000 Genomes Browser:
rs199476368
Molecular consequence:
  • NM_000487.6:c.946G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085425.3:c.946G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085426.3:c.946G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085427.3:c.946G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001085428.3:c.688G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362782.2:c.688G>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000090520UniProtKB/Swiss-Prot
no classification provided
not providednot providednot provided

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Citations

PubMed

Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene.

Draghia R, Letourneur F, Drugan C, Manicom J, Blanchot C, Kahn A, Poenaru L, Caillaud C.

Hum Mutat. 1997;9(3):234-42.

PubMed [citation]
PMID:
9090526

Details of each submission

From UniProtKB/Swiss-Prot, SCV000090520.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024