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NM_001128840.3(CACNA1D):c.3168-6C>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Aug 3, 2021)
Last evaluated:
Apr 27, 2021
Accession:
VCV000227198.4
Variation ID:
227198
Description:
single nucleotide variant
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NM_001128840.3(CACNA1D):c.3168-6C>G

Allele ID
229119
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p21.1
Genomic location
3: 53747296 (GRCh38) GRCh38 UCSC
3: 53781323 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.53781323C>G
NC_000003.12:g.53747296C>G
NM_001128840.3:c.3168-6C>G MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:53747295:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (G)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00146
The Genome Aggregation Database (gnomAD) 0.00118
1000 Genomes Project 0.00100
The Genome Aggregation Database (gnomAD), exomes 0.00033
Exome Aggregation Consortium (ExAC) 0.00037
Trans-Omics for Precision Medicine (TOPMed) 0.00131
Links
ClinGen: CA2454486
dbSNP: rs72556355
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Apr 27, 2021 RCV000901569.3
Likely benign 1 criteria provided, single submitter Aug 25, 2017 RCV000220678.2
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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

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Aug 25, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000270007.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
c.3228-6C>G in intron 26 of CACNA1D: This variant is not expected to have clinic al significance because it has been identified in 0.38% (92/24032) of … (more)
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001045946.2
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Apr 27, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001767610.1
Submitted: (Aug 03, 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 rs72556355...

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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 Aug 17, 2021