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NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 16, 2019
Accession:
VCV000966565.2
Variation ID:
966565
Description:
4bp duplication
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NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter)

Allele ID
958111
Variant type
Duplication
Variant length
4 bp
Cytogenetic location
17q21.2
Genomic location
17: 42544206-42544207 (GRCh38) GRCh38 UCSC
17: 40696224-40696225 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.40696225_40696228dup
NC_000017.11:g.42544207_42544210dup
NG_011552.1:g.13275_13278dup
NM_000263.4:c.2201_2204dup MANE Select NP_000254.2:p.Tyr735Ter nonsense
Protein change
Y735*
Other names
-
Canonical SPDI
NC_000017.11:42544206:ATTA:ATTAATTA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs2092930997
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 16, 2019 RCV001241282.2
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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
Uncertain significance
(Oct 16, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal type 2V
Mucopolysaccharidosis, MPS-III-B
Allele origin: germline
Invitae
Accession: SCV001414291.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change results in a premature translational stop signal in the NAGLU gene (p.Tyr735*). While this is not anticipated to result in nonsense mediated … (more)

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 rs2092930997...

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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