UBE2F-SCLY

UBE2F-SCLY readthrough (NMD candidate)

Basic information

Region (hg38): 2:237967014-238099412

Links

ENSG00000258984 ∙ NCBI:100533179 ∙ ∙ HGNC:48339 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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		1	3
splice region						0
non coding			32	3	5	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)
2-237973180-G-A		not specified	Uncertain significance (Dec 01, 2022)
2-237973184-C-T		not specified	Uncertain significance (Jul 14, 2021)
2-237994774-A-G		not specified	Uncertain significance (Jan 18, 2025)
2-238016619-G-A		not specified	Uncertain significance (Dec 01, 2022)
2-238025360-C-G		not specified	Uncertain significance (Mar 11, 2022)
2-238032252-A-G		not specified	Uncertain significance (Dec 02, 2022)
2-238041324-C-T		not specified	Uncertain significance (Sep 27, 2024)
2-238061049-G-T		not specified	Uncertain significance (Aug 17, 2022)
2-238061086-C-T		not specified	Uncertain significance (Jul 14, 2022)
2-238061088-C-G		not specified	Uncertain significance (Feb 12, 2024)
2-238061089-C-G		not specified	Likely benign (Jan 18, 2025)
2-238061101-C-G		not specified	Uncertain significance (Jan 08, 2025)
2-238064382-A-G		not specified	Uncertain significance (Feb 28, 2025)
2-238064417-G-T		not specified	Uncertain significance (Jan 23, 2024)
2-238064458-C-T		not specified	Likely benign (Dec 22, 2023)
2-238068068-G-T		not specified	Uncertain significance (Jul 26, 2024)
2-238068073-G-A		not specified	Uncertain significance (Aug 04, 2022)
2-238068080-A-G		not specified	Uncertain significance (Feb 27, 2024)
2-238068097-C-T		not specified	Uncertain significance (Sep 12, 2023)
2-238068120-A-G			Benign (Mar 02, 2018)
2-238068122-G-T		not specified	Uncertain significance (May 31, 2023)
2-238068129-A-T		not specified	Uncertain significance (Mar 05, 2025)
2-238068152-C-T		not specified	Uncertain significance (Oct 29, 2024)
2-238068154-G-A		not specified	Uncertain significance (Sep 29, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP