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NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 23, 2021)
Last evaluated:
Nov 27, 2020
Accession:
VCV000158054.8
Variation ID:
158054
Description:
single nucleotide variant
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NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=)

Allele ID
167901
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p13.2
Genomic location
5: 37153827 (GRCh38) GRCh38 UCSC
5: 37153929 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.37153929G>A
NM_023073.3:c.8124C>T NP_075561.3:p.Asp2708= synonymous
NC_000005.10:g.37153827G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:37153826:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00459 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00636
Exome Aggregation Consortium (ExAC) 0.00638
1000 Genomes Project 0.00459
The Genome Aggregation Database (gnomAD) 0.00589
Trans-Omics for Precision Medicine (TOPMed) 0.00440
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00577
Links
ClinGen: CA171464
dbSNP: rs114126795
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Jul 5, 2016 RCV000145382.7
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Jan 12, 2018 RCV000625255.3
Benign 1 criteria provided, single submitter Nov 27, 2020 RCV000646714.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CPLANE1 - - GRCh38
GRCh37
714 823

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 09, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000332492.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jul 05, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000518607.4
Submitted: (Mar 26, 2018)
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)
Benign
(Jun 28, 2017)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 17
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Study: VKGL Data-share Consensus
Accession: SCV000744322.1
Submitted: (Apr 09, 2018)
Evidence details
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Joubert syndrome 17
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000457353.3
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)
Benign
(Nov 27, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000768493.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000192463.1
Submitted: (Sep 11, 2014)
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)
Evidence details
Benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: germline
Clinical Genetics,Academic Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001922687.1
Submitted: (Sep 23, 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.

Text-mined citations for rs114126795...

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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 30, 2021