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NM_000168.6(GLI3):c.363C>T (p.His121=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 14, 2019)
Last evaluated:
Feb 27, 2018
Accession:
VCV000289225.2
Variation ID:
289225
Description:
single nucleotide variant
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NM_000168.6(GLI3):c.363C>T (p.His121=)

Allele ID
273462
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p14.1
Genomic location
7: 42148230 (GRCh38) GRCh38 UCSC
7: 42187829 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.42187829G>A
NC_000007.14:g.42148230G>A
NM_000168.6:c.363C>T MANE Select NP_000159.3:p.His121= synonymous
NG_008434.1:g.93790C>T
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:42148229:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (A)

Allele frequency
1000 Genomes Project 0.00180
Exome Aggregation Consortium (ExAC) 0.00082
The Genome Aggregation Database (gnomAD), exomes 0.00050
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Links
ClinGen: CA4231238
dbSNP: rs150295615
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 Jul 8, 2016 RCV000273338.1
Benign 1 criteria provided, single submitter Feb 27, 2018 RCV000865409.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GLI3 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
638 665

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jul 08, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000343545.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Feb 27, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001006367.1
Submitted: (Mar 14, 2019)
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GLI3 - - - -

Text-mined citations for rs150295615...

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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 30, 2020