TRBJ2-1

Chr 7

T cell receptor beta joining 2-1

Also known as: TCRBJ2S1, TRBJ21

Predicted to be involved in adaptive immune response. Predicted to be located in plasma membrane. Predicted to be part of T cell receptor complex. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
21
Pathogenic / LP
25
ClinVar variants
6
Pubs (1 yr)
Missense Z
LOEUF
Clinical SummaryTRBJ2-1
📋
ClinVar Variants
21 Pathogenic / Likely Pathogenic· 1 VUS of 25 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

DN
DN
0.7229th %ile
GOF
0.5857th %ile
LOF
0.1697th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

25 submitted variants in ClinVar

Classification Summary

Pathogenic20
Likely Pathogenic1
VUS1
Likely Benign3
20
Pathogenic
1
Likely Pathogenic
1
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
20
Likely Pathogenic
1
VUS
1
Likely Benign
3
Benign
0
Total25

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

TRBJ2-1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence