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NM_000263.4(NAGLU):c.675G>T (p.Leu225=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Aug 17, 2021)
Last evaluated:
Feb 25, 2021
Accession:
VCV000323295.9
Variation ID:
323295
Description:
single nucleotide variant
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NM_000263.4(NAGLU):c.675G>T (p.Leu225=)

Allele ID
344551
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.2
Genomic location
17: 42538482 (GRCh38) GRCh38 UCSC
17: 40690500 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.40690500G>T
NC_000017.11:g.42538482G>T
NG_011552.1:g.7550G>T
NM_000263.4:c.675G>T MANE Select NP_000254.2:p.Leu225= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:42538481:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00419 (T)

Allele frequency
1000 Genomes Project 0.00419
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00515
Exome Aggregation Consortium (ExAC) 0.00133
Trans-Omics for Precision Medicine (TOPMed) 0.00539
The Genome Aggregation Database (gnomAD) 0.00427
Links
ClinGen: CA8576813
dbSNP: rs115680529
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, single submitter Jan 13, 2018 RCV000352741.3
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV000974680.3
Likely benign 1 criteria provided, single submitter Feb 25, 2021 RCV001564877.3
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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
459 471

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000402904.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
Invitae
Accession: SCV001122519.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Feb 25, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001788116.1
Submitted: (Aug 17, 2021)
Evidence details
Benign
(Nov 11, 2019)
no assertion criteria provided
Method: clinical testing
Mucopolysaccharidosis type IIIB
Allele origin: germline
Natera, Inc.
Accession: SCV001458028.1
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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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 rs115680529...

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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 Sep 29, 2021