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NM_000263.4(NAGLU):c.1788C>T (p.Gly596=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jul 4, 2021)
Last evaluated:
Feb 1, 2021
Accession:
VCV000281006.7
Variation ID:
281006
Description:
single nucleotide variant
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NM_000263.4(NAGLU):c.1788C>T (p.Gly596=)

Allele ID
265243
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.2
Genomic location
17: 42543794 (GRCh38) GRCh38 UCSC
17: 40695812 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.40695812C>T
NC_000017.11:g.42543794C>T
NG_011552.1:g.12862C>T
NM_000263.4:c.1788C>T MANE Select NP_000254.2:p.Gly596= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:42543793:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (T)

Allele frequency
1000 Genomes Project 0.00140
Trans-Omics for Precision Medicine (TOPMed) 0.00465
The Genome Aggregation Database (gnomAD) 0.00516
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00523
Trans-Omics for Precision Medicine (TOPMed) 0.00432
The Genome Aggregation Database (gnomAD) 0.00455
Links
ClinGen: CA8577092
dbSNP: rs115166595
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Feb 19, 2016 RCV000365807.1
Benign 1 criteria provided, single submitter Dec 8, 2020 RCV000652883.4
Likely benign 2 criteria provided, single submitter Apr 27, 2017 RCV001126735.2
Likely benign 1 criteria provided, single submitter Feb 1, 2021 RCV001532303.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NAGLU - - GRCh38
GRCh37
462 474

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Feb 19, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000331036.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001285973.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (2)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
Invitae
Accession: SCV000774755.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Feb 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001747799.1
Submitted: (Jul 04, 2021)
Evidence details
Benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Mucopolysaccharidosis type IIIB
Allele origin: germline
Natera, Inc.
Accession: SCV001463391.1
Submitted: (Dec 28, 2020)
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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Title Author Journal Year Link
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). Beesley CE Journal of inherited metabolic disease 2005 PMID: 16151907
Sanfilippo B syndrome: molecular defects in Greek patients. Beesley C Clinical genetics 2004 PMID: 14984474
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=NAGLU - - - -

Text-mined citations for rs115166595...

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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 Nov 27, 2021