chr22:50625392:G>A Detail (hg38) (ARSA)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr22:51,063,820-51,063,820 View the variant detail on this assembly version.
hg38	chr22:50,625,392-50,625,392

HGVS

ARSA

Type	Transcript	Protein
RefSeq	NM_000487.5:c.1283C>T	NP_000478.3:p.Pro428Leu
	NM_001085426.2:c.1283C>T	NP_001078895.2:p.Pro428Leu
	NM_001085427.2:c.1283C>T	NP_001078896.2:p.Pro428Leu
	NM_001085425.2:c.1283C>T	NP_001078894.2:p.Pro428Leu
	NM_001085428.2:c.1025C>T	NP_001078897.1:p.Pro342Leu
Ensemble	ENST00000216124.10:c.1283C>T	ENST00000216124.10:p.Pro428Leu
	ENST00000356098.9:c.1283C>T	ENST00000356098.9:p.Pro428Leu
	ENST00000395619.3:c.1283C>T	ENST00000395619.3:p.Pro428Leu
	ENST00000395621.7:c.1283C>T	ENST00000395621.7:p.Pro428Leu
	ENST00000453344.6:c.1025C>T	ENST00000453344.6:p.Pro342Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

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

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

ARSA

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	tgv66342864	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	1997-01-01	no assertion criteria provided	Metachromatic leukodystrophy, juvenile type	germline	Detail
Pathogenic	1997-01-01	no assertion criteria provided	Arylsulfatase a, allele a	germline	Detail
Pathogenic	1997-01-01	no assertion criteria provided	Metachromatic leukodystrophy, adult type	germline	Detail
Pathogenic	2024-01-22	criteria provided, multiple submitters, no conflicts	metachromatic leukodystrophy	germline inherited not applicable unknown	Detail
Pathogenic	2024-01-01	criteria provided, multiple submitters, no conflicts	not provided	germline unknown	Detail
Uncertain significance	2019-01-01	no assertion criteria provided	intellectual disability	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.241	Metachromatic Leukodystrophy, Adult-Type (disorder)	NA	CLINVAR		Detail
0.514	Leukodystrophy, Metachromatic	NA	CLINVAR		Detail
0.514	Leukodystrophy, Metachromatic	Further sequence analysis of the ARSA gene performed on DNA samples of Polish ML...	UNIPROT	20339381	Detail
0.514	Leukodystrophy, Metachromatic	In addition, the presence of the most common mutations associated with ASA pseud...	BeFree	16613739	Detail
0.241	Metachromatic Leukodystrophy, Adult-Type (disorder)	P426L and I179S are the two most frequent mutations in juvenile and adult metach...	BeFree	16966551	Detail
0.241	Metachromatic leukodystrophy, juvenile type	NA	CLINVAR		Detail
0.514	Leukodystrophy, Metachromatic	Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromati...	BeFree	16140556	Detail
0.514	Leukodystrophy, Metachromatic	Our preliminary studies on 43 unrelated Polish patients suffering from different...	BeFree	20339381	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) AND Metachromatic leukodystrophy, juvenile type	ClinVar	Detail
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) AND Arylsulfatase a, allele a	ClinVar	Detail
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) AND Metachromatic leukodystrophy, adult type	ClinVar	Detail
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) AND Metachromatic leukodystrophy	ClinVar	Detail
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) AND not provided	ClinVar	Detail
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) AND Intellectual disability	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Further sequence analysis of the ARSA gene performed on DNA samples of Polish MLD patients with unid...	DisGeNET	Detail
In addition, the presence of the most common mutations associated with ASA pseudo-deficiency (N350S,...	DisGeNET	Detail
P426L and I179S are the two most frequent mutations in juvenile and adult metachromatic leukodystrop...	DisGeNET	Detail
NA	DisGeNET	Detail
Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy pat...	DisGeNET	Detail
Our preliminary studies on 43 unrelated Polish patients suffering from different types of metachroma...	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: rs28940893 dbSNP
Genome: hg38
Position: chr22:50,625,392-50,625,392
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8574
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): 114564
Allele Counts in All Race (ExAC): 42
Heterozygous Counts in All Race (ExAC): 42
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.666073111972347E-4

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