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_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 30, 2021)
Last evaluated:
Apr 19, 2021
Accession:
VCV000095652.6
Variation ID:
95652
Description:
single nucleotide variant
Help

NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro)

Allele ID
101549
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 48755923 (GRCh38) GRCh38 UCSC
15: 49048120 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.48755923C>G
NC_000015.9:g.49048120C>G
NG_027518.1:g.60224G>C
... more HGVS
Protein change
A1109P
Other names
-
Canonical SPDI
NC_000015.10:48755922:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00499 (G)

Allele frequency
1000 Genomes Project 0.00499
The Genome Aggregation Database (gnomAD) 0.00325
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00266
Trans-Omics for Precision Medicine (TOPMed) 0.00392
Links
ClinGen: CA148693
dbSNP: rs115832709
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Jun 22, 2017 RCV000081685.8
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Apr 19, 2021 RCV000890185.3
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV001119408.1
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001119409.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CEP152 - - GRCh38
GRCh37
302 326

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jul 08, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000113616.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://browser.1000genomes.org/H…
Benign
(Jun 22, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000594049.1
Submitted: (Jul 05, 2017)
Evidence details
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001033917.2
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Primary autosomal recessive microcephaly 9
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001277805.1
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)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Seckel syndrome 5
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001277806.1
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
(Apr 19, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000723983.2
Submitted: (Sep 30, 2021)
Evidence details

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.

Text-mined citations for rs115832709...

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 Nov 20, 2021