COMETT
Basic information
Region (hg38): 7:116563594-116724495
Previous symbols: [ "LINC01510" ]
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 COMETT 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 | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 |
Variants in COMETT
This is a list of pathogenic ClinVar variants found in the COMETT region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-116672385-C-G | Renal cell carcinoma | Benign (Jan 18, 2024) | ||
| 7-116672385-C-C | Autism, susceptibility to, 9 | Uncertain significance (Nov 07, 2006) | ||
| 7-116672410-C-A | Papillary renal cell carcinoma type 1 | Benign (Jan 13, 2018) | ||
| 7-116672412-C-A | Papillary renal cell carcinoma type 1 | Uncertain significance (Jan 13, 2018) | ||
| 7-116672427-C-G | Papillary renal cell carcinoma type 1 | Uncertain significance (Jan 13, 2018) | ||
| 7-116672435-T-G | Papillary renal cell carcinoma type 1 | Uncertain significance (Jan 12, 2018) | ||
| 7-116672483-C-T | Papillary renal cell carcinoma type 1 | Uncertain significance (Jan 13, 2018) | ||
| 7-116672511-G-T | Likely benign (Aug 12, 2019) | |||
| 7-116672526-G-T | Papillary renal cell carcinoma type 1 | Uncertain significance (Jan 13, 2018) | ||
| 7-116672528-G-T | Papillary renal cell carcinoma type 1 | Uncertain significance (Jan 12, 2018) | ||
| 7-116672557-C-G | Papillary renal cell carcinoma type 1 | Uncertain significance (Jan 13, 2018) | ||
| 7-116672813-GA-G | Likely benign (Jun 18, 2018) | |||
| 7-116695757-A-T | not specified | not provided (Sep 19, 2013) | ||
| 7-116695774-G-C | not specified | not provided (Sep 19, 2013) | ||
| 7-116699036-A-G | not specified | Likely benign (Jul 31, 2024) | ||
| 7-116699045-C-T | not specified | Likely benign (Aug 15, 2023) | ||
| 7-116699058-C-T | Papillary renal cell carcinoma type 1 • not specified | Benign (Aug 15, 2023) | ||
| 7-116699059-C-G | not specified | Likely benign (Feb 06, 2024) | ||
| 7-116699067-G-A | not specified • Papillary renal cell carcinoma type 1 | Benign/Likely benign (Feb 06, 2024) | ||
| 7-116699071-ATAAACCTCTCATAATGAAGGCCCCCGCTG-A | Renal cell carcinoma • Hereditary cancer-predisposing syndrome | Uncertain significance (Jan 06, 2021) | ||
| 7-116699078-T-C | Papillary renal cell carcinoma type 1 | Likely benign (Aug 14, 2015) | ||
| 7-116699082-A-T | Hereditary cancer-predisposing syndrome | Uncertain significance (Apr 07, 2022) | ||
| 7-116699083-T-C | Hereditary cancer-predisposing syndrome | Uncertain significance (Oct 10, 2023) | ||
| 7-116699091-G-A | Renal cell carcinoma • Hereditary cancer-predisposing syndrome | Conflicting classifications of pathogenicity (Nov 17, 2023) | ||
| 7-116699092-C-T | Renal cell carcinoma • Hereditary cancer-predisposing syndrome | Uncertain significance (Mar 01, 2024) |
GnomAD
Source:
dbNSFP
Source: