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NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000784713.4
Variation ID:
784713
Description:
single nucleotide variant
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NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn)

Allele ID
715460
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
17q21.2
Genomic location
17: 42543352 (GRCh38) GRCh38 UCSC
17: 40695370 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.40695370G>A
NC_000017.11:g.42543352G>A
NG_011552.1:g.12420G>A
NM_000263.4:c.1346G>A MANE Select NP_000254.2:p.Ser449Asn missense
Protein change
S449N
Other names
-
Canonical SPDI
NC_000017.11:42543351:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00032
Trans-Omics for Precision Medicine (TOPMed) 0.00078
The Genome Aggregation Database (gnomAD) 0.00080
Trans-Omics for Precision Medicine (TOPMed) 0.00082
The Genome Aggregation Database (gnomAD) 0.00077
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00085
The Genome Aggregation Database (gnomAD), exomes 0.00020
1000 Genomes Project 0.00120
Links
dbSNP: rs114605439
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Dec 3, 2020 RCV000966476.3
Likely benign 1 no assertion criteria provided Sep 16, 2020 RCV001276829.1
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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
Likely benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
Invitae
Accession: SCV001113804.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Sep 16, 2020)
no assertion criteria provided
Method: clinical testing
Mucopolysaccharidosis type IIIB
Allele origin: germline
Natera, Inc.
Accession: SCV001463388.1
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 rs114605439...

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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