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NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(5)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Sep 25, 2021)
Last evaluated:
Jul 16, 2021
Accession:
VCV000213713.9
Variation ID:
213713
Description:
single nucleotide variant
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NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly)

Allele ID
210352
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20q13.12
Genomic location
20: 46725353 (GRCh38) GRCh38 UCSC
20: 45353992 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.45353992C>G
NC_000020.11:g.46725353C>G
NG_016284.1:g.20714C>G
NM_030777.4:c.317C>G MANE Select NP_110404.1:p.Ala106Gly missense
Protein change
A106G
Other names
p.A106G:GCT>GGT
Canonical SPDI
NC_000020.11:46725352:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00009
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
The Genome Aggregation Database (gnomAD) 0.00019
The Genome Aggregation Database (gnomAD), exomes 0.00012
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00020
Links
ClinGen: CA322497
dbSNP: rs144095826
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 Apr 14, 2017 RCV000198021.5
Uncertain significance 1 criteria provided, single submitter Jan 3, 2020 RCV000618750.2
Uncertain significance 1 criteria provided, single submitter Feb 1, 2019 RCV001171026.1
Uncertain significance 1 criteria provided, single submitter Jul 16, 2021 RCV001705118.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Sep 17, 2020 RCV000354340.7
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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
Uncertain significance
(Jul 16, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000250699.12
Submitted: (Sep 25, 2021)
Evidence details
Comment:
In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as … (more)
Uncertain significance
(Apr 14, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000605163.1
Submitted: (Jun 30, 2017)
Evidence details
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Arterial tortuosity syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000434151.3
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)
Uncertain significance
(Feb 01, 2019)
criteria provided, single submitter
Method: clinical testing
Familial thoracic aortic aneurysm and aortic dissection
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Accession: SCV001333695.1
Submitted: (Mar 03, 2020)
Evidence details
Uncertain significance
(Jan 03, 2020)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000739652.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.A106G variant (also known as c.317C>G), located in coding exon 2 of the SLC2A10 gene, results from a C to G substitution at nucleotide … (more)
Likely benign
(Sep 17, 2020)
criteria provided, single submitter
Method: clinical testing
Arterial tortuosity syndrome
Allele origin: germline
Invitae
Accession: SCV000644164.5
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 rs144095826...

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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