BRPF3-AS1
Basic information
Region (hg38): 6:36112466-36200952
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 BRPF3-AS1 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 BRPF3-AS1
This is a list of pathogenic ClinVar variants found in the BRPF3-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-36130593-T-G | not specified | Uncertain significance (Nov 17, 2022) | ||
6-36130659-T-C | not specified | Uncertain significance (Nov 26, 2024) | ||
6-36130697-G-A | not specified | Uncertain significance (Nov 30, 2022) | ||
6-36131273-C-T | Benign (Jan 08, 2018) | |||
6-36131339-A-G | not specified | Uncertain significance (Oct 25, 2022) | ||
6-36131368-C-G | not specified | Uncertain significance (Dec 05, 2022) | ||
6-36132630-C-T | not specified | Uncertain significance (Feb 28, 2024) | ||
6-36132648-C-T | not specified | Uncertain significance (Dec 28, 2022) | ||
6-36135779-C-T | not specified | Uncertain significance (Sep 20, 2023) | ||
6-36135780-G-A | Benign (Jan 08, 2018) | |||
6-36135791-A-G | not specified | Uncertain significance (May 13, 2024) | ||
6-36135817-G-A | not specified | Uncertain significance (Dec 07, 2024) | ||
6-36136040-G-A | not specified | Uncertain significance (Oct 20, 2021) | ||
6-36136496-G-A | not specified | Uncertain significance (Jun 22, 2023) | ||
6-36136653-T-C | Benign (Dec 31, 2019) | |||
6-36136668-G-A | not specified | Uncertain significance (Aug 13, 2021) | ||
6-36136734-G-A | not specified | Uncertain significance (Dec 05, 2022) | ||
6-36138375-G-C | not specified | Uncertain significance (Jun 02, 2024) | ||
6-36138394-G-A | not specified | Uncertain significance (Mar 25, 2024) | ||
6-36138435-C-A | not specified | Likely benign (Feb 22, 2024) | ||
6-36138436-G-A | not specified | Uncertain significance (Feb 22, 2024) | ||
6-36138879-C-G | not specified | Uncertain significance (May 14, 2024) | ||
6-36138880-T-G | Likely benign (Aug 01, 2022) | |||
6-36138899-A-C | not specified | Uncertain significance (Nov 27, 2024) | ||
6-36138924-G-A | not specified | Uncertain significance (Jun 22, 2021) |
GnomAD
Source:
dbNSFP
Source: