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NM_030777.4(SLC2A10):c.630C>T (p.Gly210=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Sep 24, 2021)
Last evaluated:
Sep 13, 2021
Accession:
VCV000241605.6
Variation ID:
241605
Description:
single nucleotide variant
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NM_030777.4(SLC2A10):c.630C>T (p.Gly210=)

Allele ID
243582
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20q13.12
Genomic location
20: 46725666 (GRCh38) GRCh38 UCSC
20: 45354305 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.45354305C>T
NC_000020.11:g.46725666C>T
NG_016284.1:g.21027C>T
NM_030777.4:c.630C>T MANE Select NP_110404.1:p.Gly210= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000020.11:46725665:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00041
The Genome Aggregation Database (gnomAD) 0.00096
The Genome Aggregation Database (gnomAD), exomes 0.00033
Trans-Omics for Precision Medicine (TOPMed) 0.00112
1000 Genomes Project 0.00140
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00161
Links
ClinGen: CA9892011
dbSNP: rs142431229
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 14, 2020 RCV000229091.7
Likely benign 1 criteria provided, single submitter Sep 13, 2021 RCV001705287.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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: SCV000434156.3
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)
Benign
(Nov 14, 2020)
criteria provided, single submitter
Method: clinical testing
Arterial tortuosity syndrome
Allele origin: germline
Invitae
Accession: SCV000290949.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Sep 13, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000729558.1
Submitted: (Sep 24, 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 rs142431229...

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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