CACNG1
Basic information
Region (hg38): 17:67044554-67056797
Previous symbols: [ "CACNLG" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CACNG1 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 14 | 15 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 14 | 1 | 0 |
Variants in CACNG1
This is a list of pathogenic ClinVar variants found in the CACNG1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 17-67044689-G-A | not specified | Uncertain significance (Jul 21, 2021) | ||
| 17-67044691-G-A | not specified | Uncertain significance (Feb 28, 2024) | ||
| 17-67044694-A-C | not specified | Uncertain significance (Jun 05, 2023) | ||
| 17-67044713-C-A | not specified | Uncertain significance (Dec 14, 2021) | ||
| 17-67044728-C-T | not specified | Uncertain significance (Dec 13, 2023) | ||
| 17-67044739-G-A | not specified | Uncertain significance (Jan 06, 2023) | ||
| 17-67044874-A-G | not specified | Uncertain significance (Feb 05, 2024) | ||
| 17-67054031-G-A | not specified | Uncertain significance (Oct 04, 2022) | ||
| 17-67055123-G-A | not specified | Uncertain significance (Apr 08, 2022) | ||
| 17-67055129-G-A | not specified | Uncertain significance (May 17, 2023) | ||
| 17-67055163-G-A | not specified | Uncertain significance (May 13, 2024) | ||
| 17-67055178-T-C | not specified | Uncertain significance (Apr 13, 2022) | ||
| 17-67055186-G-A | not specified | Likely benign (Dec 13, 2021) | ||
| 17-67055187-G-A | not specified | Uncertain significance (Feb 28, 2023) | ||
| 17-67056054-T-A | not specified | Uncertain significance (Jan 31, 2024) | ||
| 17-67056063-C-G | not specified | Uncertain significance (Jan 27, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| CACNG1 | protein_coding | protein_coding | ENST00000226021 | 4 | 12204 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.49e-8 | 0.0636 | 125720 | 0 | 27 | 125747 | 0.000107 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.321 | 141 | 152 | 0.927 | 0.0000101 | 1453 |
| Missense in Polyphen | 38 | 48.146 | 0.78926 | 459 | ||
| Synonymous | -0.225 | 71 | 68.6 | 1.03 | 0.00000537 | 442 |
| Loss of Function | -0.539 | 11 | 9.23 | 1.19 | 4.78e-7 | 94 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000177 | 0.000177 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000381 | 0.000381 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000115 | 0.000114 |
| Middle Eastern | 0.000381 | 0.000381 |
| South Asian | 0.0000653 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Regulatory subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents in skeletal muscle. Regulates channel inactivation kinetics. {ECO:0000250|UniProtKB:P19518}.;
- Pathway
- Oxytocin signaling pathway - Homo sapiens (human);Cardiac muscle contraction - Homo sapiens (human);Dilated cardiomyopathy (DCM) - Homo sapiens (human);Arrhythmogenic right ventricular cardiomyopathy (ARVC) - Homo sapiens (human);Hypertrophic cardiomyopathy (HCM) - Homo sapiens (human);Adrenergic signaling in cardiomyocytes - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Arrhythmogenic Right Ventricular Cardiomyopathy;MAPK Signaling Pathway;GPCR Dopamine D1like receptor;Phase 0 - rapid depolarisation;Phase 2 - plateau phase;Cardiac conduction;Muscle contraction
(Consensus)
Recessive Scores
- pRec
- 0.0998
Intolerance Scores
- loftool
- 0.707
- rvis_EVS
- -0.16
- rvis_percentile_EVS
- 41.91
Haploinsufficiency Scores
- pHI
- 0.243
- hipred
- N
- hipred_score
- 0.197
- ghis
- 0.533
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.171
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cacng1
- Phenotype
- muscle phenotype;
Gene ontology
- Biological process
- sarcoplasmic reticulum calcium ion transport;calcium ion transmembrane transport;regulation of calcium ion transmembrane transport via high voltage-gated calcium channel
- Cellular component
- plasma membrane;integral component of plasma membrane;T-tubule;sarcolemma;L-type voltage-gated calcium channel complex
- Molecular function
- voltage-gated calcium channel activity;calcium channel regulator activity;protein binding