NM_000046.5(ARSB):c.317G>A (p.Arg106His) AND not provided

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Feb 24, 2020
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000675209.10

Allele description [Variation Report for NM_000046.5(ARSB):c.317G>A (p.Arg106His)]

NM_000046.5(ARSB):c.317G>A (p.Arg106His)

Gene:

ARSB:arylsulfatase B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.1

Genomic location:

Preferred name:

NM_000046.5(ARSB):c.317G>A (p.Arg106His)

HGVS:

NC_000005.10:g.78969188C>T
NG_007089.1:g.22347G>A
NM_000046.5:c.317G>AMANE SELECT
NM_198709.3:c.317G>A
NP_000037.2:p.Arg106His
NP_942002.1:p.Arg106His
NC_000005.9:g.78265011C>T
NM_000046.3:c.317G>A
NM_000046.4:c.317G>A

Protein change:

R106H

Links:

dbSNP: rs150087888

NCBI 1000 Genomes Browser:

rs150087888

Molecular consequence:

NM_000046.5:c.317G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_198709.3:c.317G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000800851	Mayo Clinic Laboratories, Mayo Clinic	no assertion criteria provided	Uncertain significance (Sep 20, 2017)	unknown	clinical testing
SCV001792291	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Feb 24, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000800851

Mayo Clinic Laboratories, Mayo Clinic

no assertion criteria provided

Uncertain significance
(Sep 20, 2017)

unknown

clinical testing

SCV001792291

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Feb 24, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000800851.1

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

From GeneDx, SCV001792291.1

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

Description

In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 17458871, 21228398)

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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