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NM_030777.4(SLC2A10):c.633G>A (p.Pro211=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Mar 3, 2020)
Last evaluated:
Jul 5, 2018
Accession:
VCV000261938.3
Variation ID:
261938
Description:
single nucleotide variant
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NM_030777.4(SLC2A10):c.633G>A (p.Pro211=)

Allele ID
257363
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
20q13.12
Genomic location
20: 46725669 (GRCh38) GRCh38 UCSC
20: 45354308 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000020.10:g.45354308G>A
NC_000020.11:g.46725669G>A
NM_030777.4:c.633G>A MANE Select NP_110404.1:p.Pro211= synonymous
NG_016284.1:g.21030G>A
Protein change
-
Other names
-
Canonical SPDI
NC_000020.11:46725668:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00004
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00011
Links
ClinGen: CA9892014
dbSNP: rs770919957
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 - RCV000243555.1
Likely benign 1 criteria provided, single submitter May 24, 2018 RCV000864126.1
Likely benign 1 criteria provided, single submitter Jul 5, 2018 RCV001171027.1
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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
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000314738.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(May 24, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001004885.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Jul 05, 2018)
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: SCV001333696.1
Submitted: (Mar 03, 2020)
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 rs770919957...

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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 Jun 23, 2021