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NM_003041.4(SLC5A2):c.500del (p.Gln167fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Feb 1, 2004
Accession:
VCV000012906.1
Variation ID:
12906
Description:
1bp deletion
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NM_003041.4(SLC5A2):c.500del (p.Gln167fs)

Allele ID
27945
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
16p11.2
Genomic location
16: 31486201 (GRCh38) GRCh38 UCSC
16: 31497522 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.31486201del
NC_000016.9:g.31497522del
NG_012892.1:g.8084del
... more HGVS
Protein change
Q167fs
Other names
-
Canonical SPDI
NC_000016.10:31486200:A:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00016
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00007
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA122780
OMIM: 182381.0003
dbSNP: rs267607067
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Feb 1, 2004 RCV000013769.19
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC5A2 - - GRCh38
GRCh37
73 116

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 01, 2004)
no assertion criteria provided
Method: literature only
RENAL GLUCOSURIA
Allele origin: germline
OMIM
Accession: SCV000034016.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. Calado J Human genetics 2004 PMID: 14614622

Text-mined citations for rs267607067...

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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 Oct 16, 2021