SAMD12
Basic information
Region (hg38): 8:118189454-118622112
Links
Phenotypes
GenCC
Source:
- benign adult familial myoclonic epilepsy (Supportive), mode of inheritance: AD
- epilepsy, familial adult myoclonic, 1 (Strong), mode of inheritance: AD
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Epilepsy, familial adult myoclonic, 1 | AD | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Neurologic | 29939203 |
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (8 variants)
- not provided (1 variants)
- Epilepsy, familial adult myoclonic, 1 (1 variants)
- See cases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SAMD12 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 | 10 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 0 | |||||
non coding ? | 1 | |||||
Total | 0 | 0 | 10 | 1 | 0 |
Variants in SAMD12
This is a list of pathogenic ClinVar variants found in the SAMD12 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
8-118379421-A-T | Inborn genetic diseases | Uncertain significance (Aug 10, 2021) | ||
8-118379424-T-C | Inborn genetic diseases | Uncertain significance (Jan 23, 2024) | ||
8-118379658-A-G | Inborn genetic diseases | Uncertain significance (May 23, 2023) | ||
8-118379658-A-T | See cases | Uncertain significance (Oct 14, 2021) | ||
8-118379661-C-A | Epilepsy, familial adult myoclonic, 1 | Uncertain significance (Apr 04, 2024) | ||
8-118439834-G-A | Likely benign (Mar 01, 2023) | |||
8-118439862-T-A | Inborn genetic diseases | Uncertain significance (Jan 10, 2022) | ||
8-118439896-C-G | Uncertain significance (Apr 01, 2024) | |||
8-118580743-C-T | Inborn genetic diseases | Uncertain significance (Aug 21, 2023) | ||
8-118580762-G-T | Inborn genetic diseases | Uncertain significance (Apr 18, 2023) | ||
8-118580801-G-C | Inborn genetic diseases | Uncertain significance (Jan 23, 2023) | ||
8-118580837-T-C | Inborn genetic diseases | Uncertain significance (Dec 13, 2021) | ||
8-118580867-C-T | Inborn genetic diseases | Uncertain significance (May 26, 2023) | ||
8-118605260-G-T | Epilepsy, familial adult myoclonic, 1 | Uncertain significance (Jun 04, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SAMD12 | protein_coding | protein_coding | ENST00000314727 | 4 | 432537 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00117 | 0.854 | 125690 | 0 | 7 | 125697 | 0.0000278 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.0826 | 109 | 107 | 1.02 | 0.00000548 | 1293 |
Missense in Polyphen | 43 | 41.319 | 1.0407 | 483 | ||
Synonymous | -0.394 | 45 | 41.8 | 1.08 | 0.00000211 | 386 |
Loss of Function | 1.26 | 6 | 10.4 | 0.579 | 6.94e-7 | 95 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000580 | 0.0000580 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000441 | 0.0000440 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
Recessive Scores
- pRec
- 0.0731
Intolerance Scores
- loftool
- 0.360
- rvis_EVS
- 0.33
- rvis_percentile_EVS
- 73.27
Haploinsufficiency Scores
- pHI
- 0.103
- hipred
- N
- hipred_score
- 0.227
- ghis
- 0.439
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.175
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Samd12
- Phenotype