Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_030777.4(SLC2A10):c.1371G>A (p.Ala457=)

Help
Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 23, 2021)
Last evaluated:
Jun 8, 2020
Accession:
VCV000261937.4
Variation ID:
261937
Description:
single nucleotide variant
Help

NM_030777.4(SLC2A10):c.1371G>A (p.Ala457=)

Allele ID
257364
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20q13.12
Genomic location
20: 46726946 (GRCh38) GRCh38 UCSC
20: 45355585 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.45355585G>A
NC_000020.11:g.46726946G>A
NG_016284.1:g.22307G>A
NM_030777.4:c.1371G>A MANE Select NP_110404.1:p.Ala457= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000020.11:46726945:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00004
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA9892173
dbSNP: rs558894862
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Jun 8, 2020 RCV000864839.2
Likely benign 1 criteria provided, single submitter - RCV000242462.3
Likely benign 1 criteria provided, single submitter Oct 29, 2018 RCV001461613.1
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000314729.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Oct 29, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001005703.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Oct 29, 2018)
criteria provided, single submitter
Method: clinical testing
Arterial tortuosity syndrome
Allele origin: germline
Invitae
Accession: SCV001665516.1
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jun 08, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000532153.5
Submitted: (Sep 23, 2021)
Evidence details

Functional evidence

Help
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

Help
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 rs558894862...

Help
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 Sep 25, 2021