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NM_018718.3(CEP41):c.277+10del

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 15, 2020
Accession:
VCV001123254.1
Variation ID:
1123254
Description:
1bp deletion
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NM_018718.3(CEP41):c.277+10del

Allele ID
1117602
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
7q32.2
Genomic location
7: 130411112 (GRCh38) GRCh38 UCSC
7: 130050953 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.130050954del
NC_000007.14:g.130411113del
NM_018718.3:c.277+10del MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:130411111:TT:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Feb 15, 2020 RCV001454210.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Feb 15, 2020)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 15
Allele origin: germline
Invitae
Accession: SCV001657930.1
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.

Record last updated Jun 14, 2021