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_001128840.3(CACNA1D):c.825C>T (p.Ala275=)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: May 27, 2021)
Last evaluated:
Sep 20, 2018
Accession:
VCV000682564.3
Variation ID:
682564
Description:
single nucleotide variant
Help

NM_001128840.3(CACNA1D):c.825C>T (p.Ala275=)

Allele ID
655566
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.1
Genomic location
3: 53665718 (GRCh38) GRCh38 UCSC
3: 53699745 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.53699745C>T
NC_000003.12:g.53665718C>T
NM_001128840.3:c.825C>T MANE Select NP_001122312.1:p.Ala275= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:53665717:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00010
The Genome Aggregation Database (gnomAD), exomes 0.00010
The Genome Aggregation Database (gnomAD) 0.00016
Trans-Omics for Precision Medicine (TOPMed) 0.00025
1000 Genomes Project 0.00080
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
dbSNP: rs193196995
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Sep 20, 2018 RCV000842687.2
Benign 1 criteria provided, single submitter Nov 24, 2014 RCV001449721.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CACNA1D - - GRCh38
GRCh37
388 399

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 11, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000984717.1
Submitted: (Apr 12, 2019)
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)
Likely benign
(Sep 20, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001069234.1
Submitted: (Mar 14, 2019)
Evidence details
Benign
(Nov 24, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV001652980.1
Submitted: (May 27, 2021)
Evidence details
Comment:
Ala275Ala in exon 6 of CACNA1D: This variant is not expected to have clinical significance because it does not alter an amino acid residue and … (more)

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.

Citations for this variant

Help
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 rs193196995...

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 Jul 07, 2021