NM_000487.6(ARSA):c.583del (p.Trp195fs) AND not provided

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000078948.19

Allele description [Variation Report for NM_000487.6(ARSA):c.583del (p.Trp195fs)]

NM_000487.6(ARSA):c.583del (p.Trp195fs)

Gene:

ARSA:arylsulfatase A [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

22q13.33

Genomic location:

Preferred name:

NM_000487.6(ARSA):c.583del (p.Trp195fs)

HGVS:

NC_000022.11:g.50626935del
NG_009260.2:g.6245del
NM_000487.6:c.583delMANE SELECT
NM_001085425.3:c.583del
NM_001085426.3:c.583del
NM_001085427.3:c.583del
NM_001085428.3:c.325del
NM_001362782.2:c.325del
NP_000478.3:p.Trp195fs
NP_001078894.2:p.Trp195fs
NP_001078895.2:p.Trp195fs
NP_001078896.2:p.Trp195fs
NP_001078897.1:p.Trp109fs
NP_001349711.1:p.Trp109fs
NC_000022.10:g.51065363del
NM_000487.4:c.577delT
NM_000487.5:c.583del
NM_000487.5:c.583delT
NM_000487.6:c.583delTMANE SELECT

Protein change:

W109fs

Links:

dbSNP: rs398123416

NCBI 1000 Genomes Browser:

rs398123416

Molecular consequence:

NM_000487.6:c.583del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001085425.3:c.583del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001085426.3:c.583del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001085427.3:c.583del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001085428.3:c.325del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001362782.2:c.325del - frameshift variant - [Sequence Ontology: SO:0001589]

Functional consequence:

loss_of_function_variant [Sequence Ontology: SO:0002054]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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PREDICTED: Homo sapiens uncharacterized lncRNA (LOC107986583), ncRNA
PREDICTED: Homo sapiens uncharacterized lncRNA (LOC107986583), ncRNA
gi|2217364114|ref|XR_001744057.3|

Nucleotide
afadin- and alpha-actinin-binding protein isoform X7 [Homo sapiens]
afadin- and alpha-actinin-binding protein isoform X7 [Homo sapiens]
gi|2217263758|ref|XP_047300213.1|

Protein
single-pass membrane and coiled-coil domain-containing protein 4 isoform X3 [Hom...
single-pass membrane and coiled-coil domain-containing protein 4 isoform X3 [Homo sapiens]
gi|2462526440|ref|XP_054225360.1|

Protein
septin-11 isoform X7 [Mus musculus]
septin-11 isoform X7 [Mus musculus]
gi|1720414256|ref|XP_030110550.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000110809	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Pathogenic (Mar 27, 2013)	germline	clinical testing	Citation Link,
SCV004011420	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (May 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000110809

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Pathogenic
(Mar 27, 2013)

germline

clinical testing

Citation Link,

SCV004011420

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(May 1, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000110809.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

From CeGaT Center for Human Genetics Tuebingen, SCV004011420.12

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

ARSA: PVS1, PM3:Strong, PM2, PP4

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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