OR10H2
Basic information
Region (hg38): 19:15728024-15729052
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 OR10H2 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 | 35 | 35 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 35 | 0 | 0 |
Variants in OR10H2
This is a list of pathogenic ClinVar variants found in the OR10H2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-15728050-G-A | not specified | Uncertain significance (Apr 04, 2023) | ||
19-15728080-A-T | not specified | Uncertain significance (Jan 08, 2024) | ||
19-15728086-G-C | not specified | Uncertain significance (Sep 22, 2022) | ||
19-15728171-T-C | not specified | Uncertain significance (Dec 06, 2022) | ||
19-15728200-C-T | not specified | Uncertain significance (Aug 28, 2023) | ||
19-15728213-C-T | not specified | Uncertain significance (Aug 30, 2021) | ||
19-15728221-T-C | not specified | Uncertain significance (Jun 05, 2023) | ||
19-15728251-G-C | not specified | Uncertain significance (Apr 19, 2023) | ||
19-15728311-C-T | not specified | Uncertain significance (May 11, 2022) | ||
19-15728315-C-T | not specified | Uncertain significance (Aug 02, 2021) | ||
19-15728320-G-A | not specified | Uncertain significance (Sep 17, 2021) | ||
19-15728321-C-T | not specified | Uncertain significance (Oct 03, 2022) | ||
19-15728378-C-T | not specified | Uncertain significance (Jun 22, 2021) | ||
19-15728404-G-A | not specified | Uncertain significance (Oct 13, 2021) | ||
19-15728408-G-A | not specified | Uncertain significance (Dec 12, 2023) | ||
19-15728413-G-T | not specified | Uncertain significance (Feb 27, 2024) | ||
19-15728419-A-G | not specified | Uncertain significance (Aug 09, 2021) | ||
19-15728449-A-G | not specified | Uncertain significance (Oct 03, 2022) | ||
19-15728453-G-A | not specified | Uncertain significance (Feb 22, 2023) | ||
19-15728458-C-T | not specified | Uncertain significance (Jun 11, 2021) | ||
19-15728501-C-T | not specified | Uncertain significance (Mar 01, 2023) | ||
19-15728563-A-G | not specified | Uncertain significance (Dec 08, 2023) | ||
19-15728570-A-T | not specified | Uncertain significance (Jun 11, 2021) | ||
19-15728605-G-A | not specified | Uncertain significance (Apr 12, 2023) | ||
19-15728611-G-A | not specified | Uncertain significance (May 05, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
OR10H2 | protein_coding | protein_coding | ENST00000305899 | 1 | 1029 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00245 | 0.560 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.00485 | 194 | 194 | 1.00 | 0.0000116 | 2032 |
Missense in Polyphen | 70 | 68.221 | 1.0261 | 819 | ||
Synonymous | -2.15 | 112 | 86.6 | 1.29 | 0.00000553 | 690 |
Loss of Function | 0.285 | 4 | 4.66 | 0.858 | 1.99e-7 | 54 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Odorant receptor. {ECO:0000305}.;
- Pathway
- Olfactory transduction - Homo sapiens (human);Olfactory receptor activity;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Olfactory Signaling Pathway;G alpha (s) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.108
Intolerance Scores
- loftool
- 0.503
- rvis_EVS
- 0.64
- rvis_percentile_EVS
- 84.05
Haploinsufficiency Scores
- pHI
- 0.127
- hipred
- N
- hipred_score
- 0.139
- ghis
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.112
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | Medium | Medium |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Gene ontology
- Biological process
- G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;chemical synaptic transmission;detection of chemical stimulus involved in sensory perception of smell;G protein-coupled serotonin receptor signaling pathway
- Cellular component
- plasma membrane;integral component of plasma membrane;dendrite
- Molecular function
- G protein-coupled receptor activity;olfactory receptor activity;G protein-coupled serotonin receptor activity;neurotransmitter receptor activity