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NM_018718.3(CEP41):c.679G>A (p.Asp227Asn)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 3, 2020
Accession:
VCV000739918.3
Variation ID:
739918
Description:
single nucleotide variant
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NM_018718.3(CEP41):c.679G>A (p.Asp227Asn)

Allele ID
750428
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q32.2
Genomic location
7: 130400785 (GRCh38) GRCh38 UCSC
7: 130040626 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.130040626C>T
NC_000007.14:g.130400785C>T
NG_032164.1:g.45426G>A
... more HGVS
Protein change
D227N, D211N
Other names
-
Canonical SPDI
NC_000007.14:130400784:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00026
The Genome Aggregation Database (gnomAD) 0.00006
Exome Aggregation Consortium (ExAC) 0.00028
Trans-Omics for Precision Medicine (TOPMed) 0.00016
Links
dbSNP: rs782704307
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Nov 3, 2020 RCV000915939.3
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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
Likely benign
(Nov 03, 2020)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 15
Allele origin: germline
Invitae
Accession: SCV001061166.3
Submitted: (Jan 07, 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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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 rs782704307...

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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