ClinVar Genomic variation as it relates to human health
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=)
Germline
Classification
(6)
Benign/Likely benign
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
CACNA1C | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
2094 | 3059 | |
CACNA1C-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 848 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jul 25, 2013 | RCV000079295.7 | |
Benign (1) |
|
Jan 31, 2024 | RCV000468235.12 | |
Benign (1) |
|
Nov 17, 2015 | RCV000620146.3 | |
Benign/Likely benign (3) |
|
Nov 29, 2023 | RCV001675603.4 |
Citations for germline classification of this variant
HelpText-mined citations for rs115216455 ...
HelpThese 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 08, 2024