POLR2M
Basic information
Region (hg38): 15:57706694-57782762
Previous symbols: [ "GRINL1A" ]
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 POLR2M 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 | 3 | |||||
missense | 32 | 39 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 3 | |||||
Total | 0 | 0 | 32 | 7 | 6 |
Variants in POLR2M
This is a list of pathogenic ClinVar variants found in the POLR2M region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
15-57706858-C-G | not specified | Uncertain significance (Jan 22, 2024) | ||
15-57706867-G-C | not specified | Uncertain significance (Apr 13, 2023) | ||
15-57706929-G-T | not specified | Uncertain significance (Apr 07, 2022) | ||
15-57706942-C-G | not specified | Uncertain significance (Jul 11, 2023) | ||
15-57707106-G-C | Benign (Jun 19, 2021) | |||
15-57707277-C-G | Benign (Jun 19, 2021) | |||
15-57708783-C-T | Benign (Jun 09, 2021) | |||
15-57708784-A-G | not specified | Likely benign (Apr 11, 2023) | ||
15-57708788-C-T | not specified | Uncertain significance (Feb 10, 2022) | ||
15-57708830-C-T | not specified | Uncertain significance (Apr 15, 2022) | ||
15-57708887-C-T | not specified | Uncertain significance (Jan 02, 2024) | ||
15-57708892-A-G | not specified | Uncertain significance (Jan 03, 2024) | ||
15-57709103-C-G | not specified | Uncertain significance (Jun 21, 2021) | ||
15-57709109-A-G | not specified | Uncertain significance (Apr 13, 2022) | ||
15-57709126-C-T | not specified | Uncertain significance (Jul 25, 2023) | ||
15-57709142-C-T | not specified | Uncertain significance (Feb 23, 2023) | ||
15-57709150-A-G | not specified | Uncertain significance (Dec 14, 2023) | ||
15-57709205-C-T | not specified | Uncertain significance (Aug 02, 2022) | ||
15-57709237-G-A | not specified | Likely benign (Dec 20, 2021) | ||
15-57709278-G-T | not specified | Uncertain significance (Mar 06, 2023) | ||
15-57709291-T-C | not specified | Uncertain significance (Feb 24, 2023) | ||
15-57709311-G-A | not specified | Uncertain significance (Jun 16, 2023) | ||
15-57709355-A-G | not specified | Uncertain significance (Dec 17, 2023) | ||
15-57711988-C-G | Inborn genetic diseases | Uncertain significance (Oct 26, 2021) | ||
15-57712028-G-A | Inborn genetic diseases | Uncertain significance (Sep 30, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
POLR2M | protein_coding | protein_coding | ENST00000299638 | 4 | 190730 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0311 | 0.960 | 125669 | 0 | 8 | 125677 | 0.0000318 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.845 | 240 | 206 | 1.17 | 0.0000112 | 2406 |
Missense in Polyphen | 66 | 62.234 | 1.0605 | 800 | ||
Synonymous | -0.266 | 81 | 78.0 | 1.04 | 0.00000421 | 713 |
Loss of Function | 2.30 | 5 | 14.4 | 0.347 | 7.58e-7 | 179 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000119 | 0.000119 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000458 | 0.0000440 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
Recessive Scores
- pRec
- 0.102
Intolerance Scores
- loftool
- rvis_EVS
- 0.31
- rvis_percentile_EVS
- 72.6
Haploinsufficiency Scores
- pHI
- hipred
- N
- hipred_score
- 0.154
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.114
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Low | Low | Low |
Primary Immunodeficiency | Medium | Low | Medium |
Cancer | Low | Low | Low |
Mouse Genome Informatics
- Gene name
- Polr2m
- Phenotype
Gene ontology
- Biological process
- RNA biosynthetic process;intracellular signal transduction;maintenance of ER location
- Cellular component
- nuclear envelope;RNA polymerase II, holoenzyme;neuronal cell body
- Molecular function
- DNA-directed 5'-3' RNA polymerase activity