BCL10 p.Gln73Ter
c.217C>T · rs1660349948 · VCV2086361
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
immunodeficiency 37
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 2 of 3 |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.1, phastCons 1 |
| Overall | ||
| CADD | 38.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- BCL10
- Protein
- p.Gln73Ter
- Coding
- c.217C>T
- MANE Select
- NM_003921
- dbSNP
- rs1660349948
- Type
- single nucleotide variant
- Location
- chr1:85270747 (GRCh38)
- Gene constraint
- LOEUF 0.637 · pLI 0.73 (gnomAD)
- Structure
- AlphaFold pLDDT 70.43 · 5 PDB
- Residue 73
- the card domain
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-gln73ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown