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NM_000046.5(ARSB):c.570A>G (p.Thr190=)

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
2
First in ClinVar:
Dec 17, 2019
Most recent Submission:
May 16, 2022
Last evaluated:
Nov 15, 2021
Accession:
VCV000720278.7
Variation ID:
720278
Description:
single nucleotide variant
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NM_000046.5(ARSB):c.570A>G (p.Thr190=)

Allele ID
721539
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78964536 (GRCh38) GRCh38 UCSC
5: 78260359 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000046.5:c.570A>G MANE Select NP_000037.2:p.Thr190= synonymous
NM_198709.3:c.570A>G NP_942002.1:p.Thr190= synonymous
NC_000005.10:g.78964536T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:78964535:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00054
Exome Aggregation Consortium (ExAC) 0.00014
The Genome Aggregation Database (gnomAD) 0.00061
Trans-Omics for Precision Medicine (TOPMed) 0.00075
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00046
Trans-Omics for Precision Medicine (TOPMed) 0.00058
The Genome Aggregation Database (gnomAD), exomes 0.00015
1000 Genomes Project 0.00100
Links
dbSNP: rs148138805
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, single submitter Nov 15, 2021 RCV000893567.7
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
ARSB - - GRCh38
GRCh37
671 686

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Benign
(Nov 15, 2021)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 6
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001037511.4
First in ClinVar: Dec 17, 2019
Last updated: May 16, 2022
Likely benign
(Apr 17, 2020)
no assertion criteria provided
Method: clinical testing
Mucopolysaccharidosis type VI
Affected status: unknown
Allele origin: germline
Natera, Inc.
Accession: SCV001458079.1
First in ClinVar: Jan 02, 2021
Last updated: Jan 02, 2021

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs148138805...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Aug 24, 2022