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NM_000046.5(ARSB):c.1143-27A>C

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 27, 2021)
Last evaluated:
Jun 19, 2021
Accession:
VCV000558773.3
Variation ID:
558773
Description:
single nucleotide variant
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NM_000046.5(ARSB):c.1143-27A>C

Allele ID
549595
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q14.1
Genomic location
5: 78839453 (GRCh38) GRCh38 UCSC
5: 78135276 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.78839453T>G
NC_000005.9:g.78135276T>G
NG_007089.1:g.152082A>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:78839452:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.28834 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.40933
The Genome Aggregation Database (gnomAD) 0.35448
1000 Genomes Project 0.28834
Trans-Omics for Precision Medicine (TOPMed) 0.34167
Exome Aggregation Consortium (ExAC) 0.39601
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.33938
Links
dbSNP: rs25415
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 Mar 3, 2015 RCV000675203.2
Benign 1 criteria provided, single submitter Jun 19, 2021 RCV001530431.1
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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
563 576

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jun 19, 2021)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 6
Allele origin: germline
Pars Genome Lab
Accession: SCV001745256.1
Submitted: (Jul 03, 2021)
Evidence details
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001939406.1
Submitted: (Sep 27, 2021)
Evidence details
Benign
(Oct 22, 2015)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000800845.1
Submitted: (May 23, 2018)
Evidence details

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 rs25415...

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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 Oct 02, 2021