Is BCL10 p.Pro6fs (c.14dup) pathogenic?

BCL10 p.Pro6fs (c.14dup) is classified Pathogenic in BCL10 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-01-11). Absent from gnomAD; Associated with immunodeficiency 37.

What condition is associated with BCL10 p.Pro6fs (c.14dup)?

BCL10 p.Pro6fs (c.14dup) is associated with immunodeficiency 37 (ClinVar).

How common is BCL10 p.Pro6fs (c.14dup) in the general population?

BCL10 p.Pro6fs (c.14dup) is absent from gnomAD (gnomAD).

BCL10 p.Pro6fs

c.14dup · rs2527119870 · VCV1968159

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

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 1 of 3
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.45	GERP -1.4, phastCons 0.99

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: BCL10
Protein: p.Pro6fs
Coding: c.14dup
MANE Select: NM_003921
dbSNP: rs2527119870
Type: Duplication
Location: chr1:85276338 (GRCh38)
Gene constraint: LOEUF 0.637 · pLI 0.73 (gnomAD)
Structure: AlphaFold pLDDT 70.43 · 5 PDB

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.Asp70fs Pathogenic ★ same condition
BCL10 p.Pro6Gln Uncertain significance ★ ⚠ same residue
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

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-pro6fs (accessed [today's date]).

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