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NM_000181.4(GUSB):c.510C>T (p.Ile170=)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 24, 2018
Accession:
VCV000729986.2
Variation ID:
729986
Description:
single nucleotide variant
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NM_000181.4(GUSB):c.510C>T (p.Ile170=)

Allele ID
736218
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q11.21
Genomic location
7: 65979798 (GRCh38) GRCh38 UCSC
7: 65444785 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.65444785G>A
NC_000007.14:g.65979798G>A
NG_016197.1:g.7517C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:65979797:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00009
The Genome Aggregation Database (gnomAD), exomes 0.00003
The Genome Aggregation Database (gnomAD) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00008
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs752674900
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 24, 2018 RCV000904717.1
Likely benign 1 criteria provided, single submitter Dec 18, 2018 RCV001500098.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GUSB - - GRCh38
GRCh37
172 193

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Dec 24, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001049254.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Dec 18, 2018)
criteria provided, single submitter
Method: clinical testing
Mucopolysaccharidosis type 7
Allele origin: germline
Invitae
Accession: SCV001704879.1
Submitted: (Jan 07, 2021)
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 rs752674900...

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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