Is POLQ p.Arg857= (c.2571C>T) pathogenic?

POLQ p.Arg857= (c.2571C>T) is classified Likely benign in POLQ (ClinVar, Single submitter, 1 submitter; last evaluated 2021-10-13). Absent from gnomAD v4.1.

How common is POLQ p.Arg857= (c.2571C>T) in the general population?

POLQ p.Arg857= (c.2571C>T) is absent from gnomAD v4.1 (gnomAD).

POLQ p.Arg857=

c.2571C>T · rs2546788519 · VCV1793247

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

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 0.42	GERP -1.8, phastCons 0.99
Overall
CADD	6.458	PHRED · no single calibrated threshold — expert panels disagree

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: POLQ
Protein: p.Arg857=
Coding: c.2571C>T
MANE Select: NM_016218 · reported on NM_199420
dbSNP: rs2546788519
Type: single nucleotide variant
Location: chr3:121490360 (GRCh38)
Structure: AlphaFold pLDDT 70.62 · 19 PDB
Residue 857: the 'disordered' region

Full POLQ gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

POLQ p.Arg857His Uncertain significance ★ ⚠ same residue
POLQ p.Arg857Leu Uncertain significance ★ ⚠ same residue
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

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-arg857 (accessed [today's date]).

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