TRPC7
Basic information
Region (hg38): 5:136212745-136365545
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 TRPC7 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 | 1 | |||||
missense | 49 | 49 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 49 | 1 | 0 |
Variants in TRPC7
This is a list of pathogenic ClinVar variants found in the TRPC7 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
5-136213460-C-T | not specified | Uncertain significance (Oct 26, 2021) | ||
5-136213470-C-G | not specified | Uncertain significance (Mar 10, 2025) | ||
5-136213539-G-C | not specified | Uncertain significance (Feb 07, 2025) | ||
5-136213562-T-C | not specified | Uncertain significance (Nov 09, 2024) | ||
5-136216262-C-T | not specified | Uncertain significance (Aug 02, 2021) | ||
5-136225320-T-C | not specified | Uncertain significance (Oct 20, 2024) | ||
5-136225338-G-A | not specified | Uncertain significance (May 07, 2024) | ||
5-136226039-A-T | not specified | Uncertain significance (Feb 18, 2025) | ||
5-136226102-G-A | not specified | Uncertain significance (Aug 17, 2022) | ||
5-136226108-T-G | not specified | Uncertain significance (Dec 24, 2024) | ||
5-136226116-A-G | not specified | Uncertain significance (Dec 03, 2024) | ||
5-136231375-G-C | not specified | Uncertain significance (Nov 25, 2024) | ||
5-136231415-A-G | not specified | Uncertain significance (Dec 25, 2024) | ||
5-136231422-C-T | not specified | Uncertain significance (Feb 28, 2025) | ||
5-136231423-G-A | Likely benign (Oct 01, 2022) | |||
5-136231443-C-T | not specified | Uncertain significance (Mar 08, 2025) | ||
5-136231458-C-T | not specified | Uncertain significance (Apr 15, 2024) | ||
5-136231473-C-T | not specified | Uncertain significance (Oct 03, 2022) | ||
5-136231544-T-C | not specified | Uncertain significance (Jan 03, 2024) | ||
5-136247496-C-T | not specified | Uncertain significance (Aug 09, 2021) | ||
5-136247501-C-G | not specified | Uncertain significance (Sep 14, 2023) | ||
5-136247501-C-T | not specified | Uncertain significance (Jul 19, 2023) | ||
5-136247598-C-T | not specified | Uncertain significance (Jan 15, 2025) | ||
5-136247616-G-C | not specified | Uncertain significance (Mar 18, 2024) | ||
5-136247670-C-A | not specified | Uncertain significance (Apr 23, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
TRPC7 | protein_coding | protein_coding | ENST00000513104 | 12 | 183732 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.000195 | 1.00 | 125321 | 0 | 25 | 125346 | 0.0000997 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.31 | 384 | 534 | 0.719 | 0.0000340 | 5671 |
Missense in Polyphen | 99 | 176.4 | 0.56121 | 1842 | ||
Synonymous | 0.326 | 224 | 230 | 0.973 | 0.0000169 | 1654 |
Loss of Function | 3.85 | 14 | 40.4 | 0.346 | 0.00000216 | 453 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000936 | 0.0000911 |
Ashkenazi Jewish | 0.000302 | 0.000298 |
East Asian | 0.000335 | 0.000331 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000107 | 0.000106 |
Middle Eastern | 0.000335 | 0.000331 |
South Asian | 0.0000338 | 0.0000327 |
Other | 0.000166 | 0.000164 |
dbNSFP
Source:
- Function
- FUNCTION: Thought to form a receptor-activated non-selective calcium permeant cation channel. Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) (By similarity). May also be activated by intracellular calcium store depletion. {ECO:0000250}.;
- Pathway
- Signaling by GPCR;Signal Transduction;Stimuli-sensing channels;Ion channel transport;Transport of small molecules;Effects of PIP2 hydrolysis;Platelet activation, signaling and aggregation;Hemostasis;TRP channels;Elevation of cytosolic Ca2+ levels;Platelet calcium homeostasis;Platelet homeostasis;G alpha (q) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.144
Intolerance Scores
- loftool
- 0.109
- rvis_EVS
- -0.13
- rvis_percentile_EVS
- 43.98
Haploinsufficiency Scores
- pHI
- 0.355
- hipred
- Y
- hipred_score
- 0.685
- ghis
- 0.422
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.896
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Trpc7
- Phenotype
- vision/eye phenotype;
Gene ontology
- Biological process
- manganese ion transport;single fertilization;platelet activation;regulation of cytosolic calcium ion concentration;calcium ion transmembrane transport
- Cellular component
- nuclear envelope;cis-Golgi network;plasma membrane;integral component of plasma membrane;cation channel complex;perinuclear region of cytoplasm
- Molecular function
- calcium channel activity;protein binding;store-operated calcium channel activity;inositol 1,4,5 trisphosphate binding