Is BCL10 p.Ser134fs (c.398dup) pathogenic?

BCL10 p.Ser134fs (c.398dup) is classified Pathogenic in BCL10 (ClinVar, No assertion criteria, 1 submitter; last evaluated 1999-01-08). Absent from gnomAD; Associated with follicular lymphoma.

What condition is associated with BCL10 p.Ser134fs (c.398dup)?

BCL10 p.Ser134fs (c.398dup) is associated with follicular lymphoma (ClinVar).

How common is BCL10 p.Ser134fs (c.398dup) in the general population?

BCL10 p.Ser134fs (c.398dup) is absent from gnomAD (gnomAD).

How is Follicular lymphoma inherited?

Typically Multigenic/multifactorial, Not applicable (Orphanet). A genetic counselor can assess individual risk for a family.

BCL10 p.Ser134fs

c.398dup · rs587776636 · VCV6257

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

follicular lymphoma

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	escapes	premature termination codon in the last exon (3 of 3) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.23	GERP -4.5, phastCons 0.019

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.Ser134fs
Coding: c.398dup
MANE Select: NM_003921
dbSNP: rs587776636
Type: Duplication
Location: chr1:85267930 (GRCh38)
Gene constraint: LOEUF 0.637 · pLI 0.73 (gnomAD)
Structure: AlphaFold pLDDT 70.43 · 5 PDB
Residue 134: a UniProt-annotated variant site (found in a malt lymphoma sample; uncertain significance)

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

Disease context

follicular lymphoma — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Follicular lymphoma (Orphanet):

Inheritance: Multigenic/multifactorial, Not applicable
Onset: Adult
Prevalence: 1-5 / 10 000 (Europe)

Similar variants

BCL10 p.Ser134= Likely benign ★ same residue
BCL10 p.Glu145fs Pathogenic same condition
BCL10 p.Gly78fs Pathogenic same condition
BCL10 p.Asn137fs Pathogenic same condition
BCL10 p.Glu212del Pathogenic same condition
BCL10 p.Val176fs Pathogenic same condition
BCL10 p.Asp70fs Pathogenic ★ same type
BCL10 p.Pro6fs Pathogenic ★ 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/bcl10-p-ser134fs (accessed [today's date]).

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