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NM_018718.3(CEP41):c.*3765G>T

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 20, 2020)
Last evaluated:
Jan 13, 2018
Accession:
VCV000358903.2
Variation ID:
358903
Description:
single nucleotide variant
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NM_018718.3(CEP41):c.*3765G>T

Allele ID
305034
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.2
Genomic location
7: 130395126 (GRCh38) GRCh38 UCSC
7: 130034967 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.130034967C>A
NC_000007.14:g.130395126C>A
NG_032164.1:g.51085G>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:130395125:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00559 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.01112
Exome Aggregation Consortium (ExAC) 0.02072
1000 Genomes Project 0.00559
The Genome Aggregation Database (gnomAD) 0.01229
The Genome Aggregation Database (gnomAD), exomes 0.01451
Links
ClinGen: CA4485156
dbSNP: rs138768326
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000329192.2
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 15
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000466785.3
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)

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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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 rs138768326...

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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 08, 2021