SMC1B
Basic information
Region (hg38): 22:45344063-45413619
Previous symbols: [ "SMC1L2" ]
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 SMC1B 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 | 4 | |||||
missense | 40 | 44 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 2 | 2 | ||||
non coding | 1 | |||||
Total | 0 | 0 | 40 | 3 | 6 |
Variants in SMC1B
This is a list of pathogenic ClinVar variants found in the SMC1B region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
22-45344560-C-T | not specified | Likely benign (May 31, 2022) | ||
22-45344581-C-G | Benign (Jul 17, 2018) | |||
22-45345464-G-C | not specified | Uncertain significance (Jun 11, 2021) | ||
22-45345483-G-A | Benign (Jul 16, 2018) | |||
22-45345485-C-T | not specified | Uncertain significance (Mar 31, 2023) | ||
22-45349748-C-G | Myoepithelial tumor | Uncertain significance (Nov 01, 2022) | ||
22-45352546-G-T | not specified | Uncertain significance (Mar 30, 2022) | ||
22-45352609-C-T | Likely benign (Dec 31, 2019) | |||
22-45354031-A-G | not specified | Uncertain significance (Oct 16, 2023) | ||
22-45354086-G-C | Benign (Apr 19, 2019) | |||
22-45358749-T-C | not specified | Uncertain significance (Mar 21, 2023) | ||
22-45358755-A-G | not specified | Uncertain significance (Dec 02, 2024) | ||
22-45359818-A-G | not specified | Uncertain significance (Jan 03, 2022) | ||
22-45359899-C-T | not specified | Uncertain significance (Feb 28, 2023) | ||
22-45359911-A-T | not specified | Uncertain significance (Aug 10, 2024) | ||
22-45359924-T-C | not specified | Uncertain significance (Sep 24, 2024) | ||
22-45359968-C-T | Benign (Jul 16, 2018) | |||
22-45362973-C-T | not specified | Uncertain significance (May 12, 2024) | ||
22-45369965-A-C | not specified | Uncertain significance (Apr 09, 2024) | ||
22-45369979-G-A | not specified | Uncertain significance (Nov 29, 2024) | ||
22-45369990-T-G | not specified | Uncertain significance (Feb 23, 2023) | ||
22-45371505-C-T | not specified | Likely benign (Jun 03, 2024) | ||
22-45371533-A-G | Benign (Dec 31, 2019) | |||
22-45371587-C-T | not specified | Uncertain significance (Jun 07, 2024) | ||
22-45372190-T-A | not specified | Uncertain significance (Apr 25, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SMC1B | protein_coding | protein_coding | ENST00000357450 | 25 | 69557 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.104 | 0.896 | 124760 | 0 | 34 | 124794 | 0.000136 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.95 | 486 | 623 | 0.781 | 0.0000316 | 8194 |
Missense in Polyphen | 132 | 208.99 | 0.63161 | 2798 | ||
Synonymous | 0.970 | 198 | 216 | 0.916 | 0.0000109 | 2143 |
Loss of Function | 5.92 | 17 | 70.8 | 0.240 | 0.00000389 | 884 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000131 | 0.000131 |
Ashkenazi Jewish | 0.000201 | 0.000199 |
East Asian | 0.0000583 | 0.0000556 |
Finnish | 0.0000931 | 0.0000928 |
European (Non-Finnish) | 0.000208 | 0.000203 |
Middle Eastern | 0.0000583 | 0.0000556 |
South Asian | 0.0000683 | 0.0000654 |
Other | 0.000168 | 0.000165 |
dbNSFP
Source:
- Function
- FUNCTION: Meiosis-specific component of cohesin complex. Required for the maintenance of meiotic cohesion, but not, or only to a minor extent, for its establishment. Contributes to axial element (AE) formation and the organization of chromatin loops along the AE. Plays a key role in synapsis, recombination and chromosome movements. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I (By similarity). {ECO:0000250}.;
- Pathway
- Cell cycle - Homo sapiens (human);Oocyte meiosis - Homo sapiens (human);Reproduction;Meiotic synapsis;Meiosis;Cell Cycle
(Consensus)
Recessive Scores
- pRec
- 0.0847
Intolerance Scores
- loftool
- 0.366
- rvis_EVS
- 0.27
- rvis_percentile_EVS
- 70.73
Haploinsufficiency Scores
- pHI
- 0.513
- hipred
- Y
- hipred_score
- 0.517
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.159
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | Medium | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Smc1b
- Phenotype
- endocrine/exocrine gland phenotype; cellular phenotype; normal phenotype; reproductive system phenotype;
Gene ontology
- Biological process
- sister chromatid cohesion;meiotic cell cycle
- Cellular component
- chromosome, centromeric region;lateral element;nucleoplasm;cytosol;meiotic cohesin complex;nuclear meiotic cohesin complex
- Molecular function
- DNA binding;ATP binding