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.20T>C (p.Ile7Thr)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Aug 17, 2021)
Last evaluated:
Nov 16, 2020
Accession:
VCV000707167.7
Variation ID:
707167
Description:
single nucleotide variant
Help

NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)

Allele ID
692159
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.2
Genomic location
7: 130440947 (GRCh38) GRCh38 UCSC
7: 130080788 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.130080788A>G
NC_000007.14:g.130440947A>G
NG_032164.1:g.5264T>C
... more HGVS
Protein change
I7T
Other names
-
Canonical SPDI
NC_000007.14:130440946:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (G)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00128
1000 Genomes Project 0.00080
Trans-Omics for Precision Medicine (TOPMed) 0.00167
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00169
Links
dbSNP: rs147494464
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 8, 2020 RCV001567050.3
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 16, 2020 RCV000878049.4
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
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 15
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001321896.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Nov 16, 2020)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 15
Allele origin: germline
Invitae
Accession: SCV001020890.3
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Jun 08, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001790669.1
Submitted: (Aug 17, 2021)
Evidence details
Comment:
In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our … (more)

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
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 rs147494464...

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