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_000722.4(CACNA2D1):c.1956-4del

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 28, 2021)
Last evaluated:
Feb 23, 2021
Accession:
VCV000416578.7
Variation ID:
416578
Description:
1bp deletion
Help

NM_000722.4(CACNA2D1):c.1956-4del

Allele ID
396047
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
7q21.11
Genomic location
7: 81974556 (GRCh38) GRCh38 UCSC
7: 81603872 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.81603880del
NC_000007.14:g.81974564del
NG_009358.2:g.474160del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:81974555:AAAAAAAAA:AAAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
0.09685 (AAAAAAAAAAA)

Allele frequency
-
Links
ClinGen: CA4317795
dbSNP: rs3083235
VarSome
Help

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 Feb 23, 2021 RCV000710354.4
Benign 1 criteria provided, single submitter Mar 8, 2017 RCV000617848.1
Benign 1 criteria provided, single submitter Dec 7, 2020 RCV001078746.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CACNA2D1 - - GRCh38
GRCh37
341 389

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(May 14, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000840557.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Mar 08, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000736396.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Benign
(Dec 07, 2020)
criteria provided, single submitter
Method: clinical testing
Brugada syndrome
Allele origin: germline
Invitae
Accession: SCV000562249.6
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Feb 23, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000714606.2
Submitted: (Sep 28, 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.

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 rs3083235...

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 Dec 04, 2021