Is BCL2L12 c.91C>T pathogenic?

BCL2L12 c.91C>T is classified Uncertain significance in BCL2L12 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-12-16).

BCL2L12 c.91C>T

VCV4830887

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

Computational evidence

Protein change
Missense predictors do not apply to this variant type.

Variant & gene context

Gene: BCL2L12
Coding: c.91C>T
MANE Select: NM_138639
Type: single nucleotide variant
Gene constraint: LOEUF 1.571 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 67.61

Full BCL2L12 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

BCL2L12 c.104T>G Uncertain significance ★ same type
BCL2L12 c.107C>T Uncertain significance ★ same type
BCL2L12 c.77A>T Uncertain significance ★ same type
BCL2L12 c.-104G>C Uncertain significance ★ same type
BCL2L12 c.-123T>A Uncertain significance ★ ⚠ same type
BCL2L12 c.-128C>T Uncertain significance ★ ⚠ same type
BCL2L12 c.-135C>T Uncertain significance ★ ⚠ same type
BCL2L12 c.-143C>G Uncertain significance ★ ⚠ 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/bcl2l12-c-91c-t (accessed [today's date]).

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