Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 16, 2020
Accession:
VCV000128705.7
Variation ID:
128705
Description:
single nucleotide variant
Help

NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)

Allele ID
134154
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.2
Genomic location
7: 130400746 (GRCh38) GRCh38 UCSC
7: 130040587 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q9BYV8:p.Cys240Gly
NC_000007.13:g.130040587A>C
NC_000007.14:g.130400746A>C
... more HGVS
Protein change
C240G, C224G
Other names
-
Canonical SPDI
NC_000007.14:130400745:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00759 (C)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00214
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00715
The Genome Aggregation Database (gnomAD), exomes 0.00166
The Genome Aggregation Database (gnomAD) 0.00758
Trans-Omics for Precision Medicine (TOPMed) 0.00798
1000 Genomes Project 0.00759
Links
UniProtKB: Q9BYV8#VAR_067057
dbSNP: rs113941736
ClinGen: CA152310
Varsome
Help

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 Apr 18, 2018 RCV000514927.5
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 16, 2020 RCV001084476.3
Benign 1 criteria provided, single submitter Jan 8, 2015 RCV000116677.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CEP41 - - GRCh38
GRCh37
269 297

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 08, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000150641.3
Submitted: (Sep 15, 2015)
Evidence details
Benign
(Apr 18, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000977462.1
Submitted: (Apr 12, 2019)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 15
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001320424.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (1)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)
Likely benign
(Mar 10, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000609553.1
Submitted: (Oct 05, 2017)
Evidence details
Benign
(Nov 16, 2020)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 15
Allele origin: germline
Invitae
Accession: SCV000771866.4
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
Mutations in the TSGA14 gene in families with autism spectrum disorders. Korvatska O American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2011 PMID: 21438139

Text-mined citations for rs113941736...

Help
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 Sep 29, 2021