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NM_020461.4(TUBGCP6):c.1529T>G (p.Leu510Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 15, 2015)
Last evaluated:
Apr 2, 2015
Accession:
VCV000212506.1
Variation ID:
212506
Description:
single nucleotide variant
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NM_020461.4(TUBGCP6):c.1529T>G (p.Leu510Arg)

Allele ID
208812
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q13.33
Genomic location
22: 50226805 (GRCh38) GRCh38 UCSC
22: 50665234 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_020461.4:c.1529T>G MANE Select NP_065194.3:p.Leu510Arg missense
NG_032160.1:g.23167T>G
NC_000022.10:g.50665234A>C
NC_000022.11:g.50226805A>C
Protein change
L510R
Other names
-
Canonical SPDI
NC_000022.11:50226804:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA208573
dbSNP: rs777796155
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 2, 2015 RCV000194415.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TUBGCP6 - - GRCh38
GRCh37
769 901

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 02, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000249316.1
Submitted: (Sep 15, 2015)
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 rs777796155...

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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 May 27, 2021