Is BCL10 p.Asp70fs (c.207dup) pathogenic?

BCL10 p.Asp70fs (c.207dup) is classified Pathogenic in BCL10 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-04-25). Associated with immunodeficiency 37.

What condition is associated with BCL10 p.Asp70fs (c.207dup)?

BCL10 p.Asp70fs (c.207dup) is associated with immunodeficiency 37 (ClinVar).

BCL10 p.Asp70fs

c.207dup · VCV3651130

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

immunodeficiency 37

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 2 of 3
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.7	GERP 2.1, phastCons 1

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

Variant & gene context

Gene: BCL10
Protein: p.Asp70fs
Coding: c.207dup
MANE Select: NM_003921
Type: Duplication
Location: chr1:85270756 (GRCh38)
Gene constraint: LOEUF 0.637 · pLI 0.73 (gnomAD)
Structure: AlphaFold pLDDT 70.43 · 5 PDB
Residue 70: the card domain; an α-helix

Full BCL10 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

immunodeficiency 37 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

BCL10 p.Pro6fs Pathogenic ★ same condition
BCL10 p.Ser121dup Uncertain significance ★ same condition
BCL10 c.346+8dup Likely benign ★ same condition
BCL10 c.58-3dup Benign ★ same condition
BCL10 p.Arg232Ter Uncertain significance ★★ same condition
BCL10 p.Arg87Gln Uncertain significance ★★ ⚠ same condition
BCL10 p.Cys119Tyr Uncertain significance ★★ ⚠ same condition
BCL10 p.Gln97Glu Uncertain significance ★★ ⚠ same condition

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/bcl10-p-asp70fs (accessed [today's date]).

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