POLL p.Gln120=
c.360G>A · rs201676435 · VCV2681494
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.261%, eas)
Conditions
1
EBV-positive nodal T- and NK-cell lymphoma
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.49 | GERP -1.6, phastCons 1 |
| Overall | ||
| CADD | 7.771 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.261%
East Asian · 117/44,768 alleles
Filtering AF
0.223%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.208%
Overall
0.0077%
124/1,609,902 alleles · rare
exomes 116/1,457,568 · genomes 8/152,334 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.261% | 383 |
| African / African-American | 0.00534% | 18,744 |
| Remaining individualsnot grpmax-eligible | 0.00482% | 20,755 |
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
- POLL
- Protein
- p.Gln120=
- Coding
- c.360G>A
- MANE Select
- NM_001174084
- dbSNP
- rs201676435
- Type
- single nucleotide variant
- Location
- chr10:101585912 (GRCh38)
- Gene constraint
- LOEUF 0.963 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 80.90 · 97 PDB
- Residue 120
- the brct domain; an α-helix
Disease context
EBV-positive nodal T- and NK-cell lymphoma
Similar variants
- POLL p.Ile491Val Likely benign same condition
- POLL p.Ser497Arg Likely benign same condition
- POLL c.1066-135C>A Benign ★★ same type
- POLL c.1195-62A>G Benign ★★ same type
- POLL c.1195-6T>C Benign ★★ same type
- POLL c.573+42A>G Benign ★★ same type
- POLL c.892-76T>C Benign ★★ same type
- POLL c.892-95T>C Benign ★★ 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/poll-p-gln120 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown