UBE2F-SCLY

UBE2F-SCLY readthrough (NMD candidate)

Basic information

Region (hg38): 2:237967014-238099412

Links

ENSG00000258984NCBI:100533179HGNC:48339GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UBE2F-SCLY gene.

  • Inborn genetic diseases (36 variants)
  • not provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UBE2F-SCLY 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)
2
clinvar
1
clinvar
3
splice region
0
non coding
32
clinvar
3
clinvar
5
clinvar
40
Total 0 0 34 3 6

Variants in UBE2F-SCLY

This is a list of pathogenic ClinVar variants found in the UBE2F-SCLY region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
2-237973135-C-T not specified Uncertain significance (Oct 26, 2022)2207785
2-237973180-G-A not specified Uncertain significance (Dec 01, 2022)2330611
2-237973184-C-T not specified Uncertain significance (Jul 14, 2021)2224738
2-237994774-A-G not specified Uncertain significance (Jan 18, 2025)3812857
2-238016619-G-A not specified Uncertain significance (Dec 01, 2022)2212856
2-238025360-C-G not specified Uncertain significance (Mar 11, 2022)2275850
2-238032252-A-G not specified Uncertain significance (Dec 02, 2022)2332120
2-238041324-C-T not specified Uncertain significance (Sep 27, 2024)3465067
2-238061049-G-T not specified Uncertain significance (Aug 17, 2022)2308572
2-238061086-C-T not specified Uncertain significance (Jul 14, 2022)2387804
2-238061088-C-G not specified Uncertain significance (Feb 12, 2024)3158460
2-238061089-C-G not specified Likely benign (Jan 18, 2025)3793105
2-238061101-C-G not specified Uncertain significance (Jan 08, 2025)3793104
2-238064382-A-G not specified Uncertain significance (Feb 28, 2025)3793107
2-238064417-G-T not specified Uncertain significance (Jan 23, 2024)3158454
2-238064458-C-T not specified Likely benign (Dec 22, 2023)3158455
2-238068068-G-T not specified Uncertain significance (Jul 26, 2024)2206509
2-238068073-G-A not specified Uncertain significance (Aug 04, 2022)2305409
2-238068080-A-G not specified Uncertain significance (Feb 27, 2024)3158456
2-238068097-C-T not specified Uncertain significance (Sep 12, 2023)2622936
2-238068120-A-G Benign (Mar 02, 2018)785025
2-238068122-G-T not specified Uncertain significance (May 31, 2023)2553451
2-238068129-A-T not specified Uncertain significance (Mar 05, 2025)3793108
2-238068152-C-T not specified Uncertain significance (Oct 29, 2024)3438064
2-238068154-G-A not specified Uncertain significance (Sep 29, 2023)3158457

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP