CERNA3
Basic information
Region (hg38): 8:56074273-56081877
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (7 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the CERNA3 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 | 7 | |||||
Total | 0 | 0 | 0 | 0 | 7 |
Variants in CERNA3
This is a list of pathogenic ClinVar variants found in the CERNA3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
8-56074324-G-C | Benign (Jun 15, 2019) | |||
8-56074352-G-A | not specified | Likely benign (Mar 04, 2025) | ||
8-56074360-C-T | not specified | Likely benign (Mar 04, 2025) | ||
8-56074360-CGCCGCCGACT-C | Uncertain significance (Jan 13, 2023) | |||
8-56074366-C-T | Likely benign (Feb 10, 2023) | |||
8-56074368-A-C | Benign (Sep 18, 2024) | |||
8-56074368-ACT-CCC | Diamond-Blackfan anemia | Uncertain significance (Feb 05, 2025) | ||
8-56074370-T-C | Likely benign (Sep 18, 2024) | |||
8-56074371-G-T | RPS20-related disorder | Likely benign (Feb 15, 2021) | ||
8-56074372-C-A | Likely benign (Feb 24, 2024) | |||
8-56074374-G-A | Likely benign (May 14, 2024) | |||
8-56074376-C-T | Uncertain significance (Apr 20, 2020) | |||
8-56074381-C-T | Uncertain significance (Aug 24, 2021) | |||
8-56074386-C-A | not specified | Uncertain significance (Mar 04, 2025) | ||
8-56074389-T-C | Lynch syndrome • not specified | Benign (Mar 04, 2025) | ||
8-56074405-T-C | not specified | Likely benign (Mar 04, 2025) | ||
8-56074416-T-A | not specified | Likely benign (Mar 04, 2025) | ||
8-56074427-G-A | not specified | Likely benign (Mar 04, 2025) | ||
8-56074473-C-A | Likely benign (Nov 11, 2021) | |||
8-56074500-C-G | Benign (Jun 15, 2019) | |||
8-56074681-C-G | Benign (Jun 15, 2019) | |||
8-56074699-G-C | Benign (Jun 14, 2019) | |||
8-56074746-C-G | Benign (Jun 15, 2019) | |||
8-56074770-G-C | Benign (Jun 15, 2019) | |||
8-56074788-T-A | Benign (Jun 15, 2019) |
GnomAD
Source:
dbNSFP
Source: