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NM_030777.4(SLC2A10):c.*29C>G

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 16, 2021)
Last evaluated:
Jun 26, 2018
Accession:
VCV000338599.4
Variation ID:
338599
Description:
single nucleotide variant
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NM_030777.4(SLC2A10):c.*29C>G

Allele ID
335637
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20q13.12
Genomic location
20: 46733863 (GRCh38) GRCh38 UCSC
20: 45362502 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.45362502C>G
NC_000020.11:g.46733863C>G
NG_016284.1:g.29224C>G
NM_030777.4:c.*29C>G MANE Select 3 prime UTR
Protein change
-
Other names
-
Canonical SPDI
NC_000020.11:46733862:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00260 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00038
1000 Genomes Project 0.00260
Trans-Omics for Precision Medicine (TOPMed) 0.00083
Exome Aggregation Consortium (ExAC) 0.00269
The Genome Aggregation Database (gnomAD), exomes 0.00292
The Genome Aggregation Database (gnomAD) 0.00411
Links
ClinGen: CA9892286
dbSNP: rs34965637
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 Jan 13, 2018 RCV000268943.2
Likely benign 1 criteria provided, single submitter Jun 26, 2018 RCV001537025.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC2A10 - - GRCh38
GRCh37
378 387

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
Arterial tortuosity syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000434175.3
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)
Likely benign
(Jun 26, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001753849.1
Submitted: (Jul 16, 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 rs34965637...

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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 08, 2021