Is BCL10 p.Ser120= (c.360C>T) pathogenic?

BCL10 p.Ser120= (c.360C>T) is classified Likely benign in BCL10 (ClinVar, Single submitter, 1 submitter; last evaluated 2025-09-13). Ultra-rare (popmax 0.0325%, sas); Associated with immunodeficiency 37.

What condition is associated with BCL10 p.Ser120= (c.360C>T)?

BCL10 p.Ser120= (c.360C>T) is associated with immunodeficiency 37 (ClinVar).

How common is BCL10 p.Ser120= (c.360C>T) in the general population?

BCL10 p.Ser120= (c.360C>T) is ultra-rare (popmax 0.0325%, sas) (gnomAD).

BCL10 p.Ser120=

c.360C>T · rs759056975 · VCV1121432

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0325%, sas)

Conditions

immunodeficiency 37

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	all four deltas below 0.2 · G>C here scores Δ0.23 · evaluated, not missing
Pangolin	Δ0.30	loss · gain 0.23 · SpliceAI below 0.2 · independent
Constraint at this position
Conservation	phyloP 4.4	GERP 1.4, phastCons 1
Overall
CADD	11.77	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0325% South Asian · 27/82,966 alleles

Filtering AF 0.0229% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0197%

Overall 0.0034% 53/1,556,768 alleles · ultra-rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.0325%	3,073
Middle Eastern	0.0174%	5,756
Remaining individualsnot grpmax-eligible	0.0134%	7,477
African / African-American	0.00413%	24,235
European (non-Finnish)	0.00122%	82,298

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: BCL10
Protein: p.Ser120=
Coding: c.360C>T
MANE Select: NM_003921
dbSNP: rs759056975
Type: single nucleotide variant
Location: chr1:85267969 (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.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
BCL10 p.Ile96Val Uncertain significance ★★ ⚠ same condition
BCL10 p.Leu177Ile Uncertain significance ★★ ⚠ same condition
BCL10 p.Thr162Met Uncertain significance ★★ ⚠ same condition
BCL10 p.Thr190Ala 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-ser120 (accessed [today's date]).

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