POLQ p.Asp2437=
c.7311C>T · rs763663799 · VCV1758266
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0165%, mid)
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 1.5 | GERP -1.3, phastCons 1 |
| Overall | ||
| CADD | 10.73 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0165%
Middle Eastern · 1/6,078 alleles
Filtering AF
0.00133%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000904%
Overall
0.00199%
32/1,608,288 alleles · ultra-rare
exomes 21/1,456,160 · genomes 11/152,128 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0165% | 6,078 |
| Admixed American | 0.005% | 19,986 |
| East Asian | 0.00446% | 22,403 |
| South Asian | 0.0033% | 30,325 |
| African / African-American | 0.00267% | 37,392 |
| European (non-Finnish) | 0.0017% | 58,749 |
| Remaining individualsnot grpmax-eligible | 0.00161% | 62,274 |
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
- POLQ
- Protein
- p.Asp2437=
- Coding
- c.7311C>T
- MANE Select
- NM_199420
- dbSNP
- rs763663799
- Type
- single nucleotide variant
- Location
- chr3:121440070 (GRCh38)
- Structure
- AlphaFold pLDDT 70.62 · 19 PDB
Similar variants
- POLQ p.Arg2169Cys Uncertain significance ★★ ⚠ same type
- POLQ p.Arg2347Cys Uncertain significance ★★ ⚠ same type
- POLQ p.Cys2219Tyr Uncertain significance ★★ ⚠ same type
- POLQ p.Glu2246Lys Uncertain significance ★★ ⚠ same type
- POLQ p.Glu731Ala Uncertain significance ★★ ⚠ same type
- POLQ p.Lys68Glu Uncertain significance ★★ ⚠ same type
- POLQ p.Met1707Val Uncertain significance ★★ ⚠ same type
- POLQ p.Thr1010Ala Uncertain significance ★★ ⚠ 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/polq-p-asp2437 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown