Is UBE2T p.Pro62fs (c.185del) pathogenic?

UBE2T p.Pro62fs (c.185del) is classified Likely pathogenic in UBE2T (ClinVar, Single submitter, 1 submitter; last evaluated 2025-11-18). Associated with Fanconi anemia complementation group T.

What condition is associated with UBE2T p.Pro62fs (c.185del)?

UBE2T p.Pro62fs (c.185del) is associated with Fanconi anemia complementation group T (ClinVar).

UBE2T p.Pro62fs

c.185del · VCV4531177

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

Fanconi anemia complementation group T

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 4 of 7
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -2.5	GERP -3.6

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: UBE2T
Protein: p.Pro62fs
Coding: c.185del
MANE Select: NM_014176
Type: Deletion
Location: chr1:202333550 (GRCh38)
Gene constraint: LOEUF 0.838 · pLI 0.08 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 86.36 · 13 PDB
Residue 62: the ubc core domain; a turn

Full UBE2T gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Fanconi anemia complementation group T — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

UBE2T c.110-280_468+264del Pathogenic same condition
UBE2T c.385-11T>C Benign ★★ same condition
UBE2T p.Ser5= Benign ★★ same condition
UBE2T p.Gln2Glu Pathogenic ★ ⚠ same condition
UBE2T c.-65+1729G>A Uncertain significance ★ same condition
UBE2T c.110-280_468+264dup Pathogenic same condition
UBE2T c.179+5G>A Pathogenic same condition
UBE2T c.469-20del Benign/Likely benign ★★ same type

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/ube2t-p-pro62fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown