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NM_000168.6(GLI3):c.4349T>G (p.Phe1450Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 19, 2018)
Last evaluated:
Aug 19, 2015
Accession:
VCV000282092.1
Variation ID:
282092
Description:
single nucleotide variant
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NM_000168.6(GLI3):c.4349T>G (p.Phe1450Cys)

Allele ID
266329
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p14.1
Genomic location
7: 41964724 (GRCh38) GRCh38 UCSC
7: 42004322 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.42004322A>C
NC_000007.14:g.41964724A>C
NM_000168.6:c.4349T>G NP_000159.3:p.Phe1450Cys missense
NG_008434.1:g.277297T>G
Protein change
F1450C
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA10604067
dbSNP: rs886042309
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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 Aug 19, 2015 RCV000347627.1
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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
417 442

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 19, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics
Accession: SCV000333290.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/em...

Citations for this variant

Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=GLI3 - - - -

Record last updated Nov 01, 2019