chr22:51065046:G>A Detail (hg19) (ARSA)

Information

Genome

Assembly Position
hg19 chr22:51,065,046-51,065,046
hg38 chr22:50,626,618-50,626,618 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000487.5:c.827C>T NP_000478.3:p.Thr276Met
NM_001085426.2:c.827C>T NP_001078895.2:p.Thr276Met
NM_001085427.2:c.827C>T NP_001078896.2:p.Thr276Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 607574 OMIM
HGNC 713 HGNC
Ensembl ENSG00000100299 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv66343103 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1993-01-01 no assertion criteria provided Metachromatic leukodystrophy, severe germline Detail
Pathogenic Likely pathogenic 2023-11-24 criteria provided, multiple submitters, no conflicts metachromatic leukodystrophy germline not applicable unknown Detail
Pathogenic 2019-03-18 criteria provided, single submitter not provided germline Detail
Pathogenic 2023-11-07 criteria provided, single submitter ARSA-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.514 Leukodystrophy, Metachromatic NA CLINVAR Detail
0.514 Leukodystrophy, Metachromatic Metachromatic leukodystrophy is a lysosomal storage disorder caused by the defic... UNIPROT 7825603 Detail
0.124 Metachromatic Leukodystrophy, Infant An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metac... BeFree 8104633 Detail
0.124 Metachromatic Leukodystrophy, Infant Characterization of two arylsulfatase A missense mutations D335V and T274M causi... BeFree 8723680 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) AND Metachromatic leukodystrophy, severe ClinVar Detail
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) AND Metachromatic leukodystrophy ClinVar Detail
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) AND not provided ClinVar Detail
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) AND ARSA-related disorder ClinVar Detail
NA DisGeNET Detail
Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfata... DisGeNET Detail
An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystro... DisGeNET Detail
Characterization of two arylsulfatase A missense mutations D335V and T274M causing late infantile me... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs74315472 dbSNP
Genome
hg19
Position
chr22:51,065,046-51,065,046
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs74315472
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8598
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
119772
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.349196807267141E-6
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