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NM_000168.6(GLI3):c.2373G>A (p.Pro791=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 24, 2021)
Last evaluated:
Apr 8, 2020
Accession:
VCV000255430.4
Variation ID:
255430
Description:
single nucleotide variant
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NM_000168.6(GLI3):c.2373G>A (p.Pro791=)

Allele ID
252858
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p14.1
Genomic location
7: 41967654 (GRCh38) GRCh38 UCSC
7: 42007252 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.42007252C>T
NC_000007.14:g.41967654C>T
NG_008434.1:g.274367G>A
NM_000168.6:c.2373G>A MANE Select NP_000159.3:p.Pro791= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:41967653:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00180 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00192
Trans-Omics for Precision Medicine (TOPMed) 0.00252
Exome Aggregation Consortium (ExAC) 0.00073
Trans-Omics for Precision Medicine (TOPMed) 0.00303
The Genome Aggregation Database (gnomAD) 0.00239
The Genome Aggregation Database (gnomAD) 0.00267
The Genome Aggregation Database (gnomAD), exomes 0.00060
1000 Genomes Project 0.00180
Links
ClinGen: CA4230632
dbSNP: rs61754622
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Sep 14, 2017 RCV000249563.3
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV000538308.4
Likely benign 1 criteria provided, single submitter Apr 8, 2020 RCV001705332.1
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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
639 666

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: SCV000302804.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Sep 14, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000856687.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Allele origin: germline
Invitae
Accession: SCV000630789.4
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Apr 08, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000724522.1
Submitted: (Sep 24, 2021)
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 rs61754622...

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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 Nov 27, 2021