Is RAD51 p.Arg235= (c.705A>T) pathogenic?

RAD51 p.Arg235= (c.705A>T) is classified Likely benign in RAD51 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-03-30). Very rare (popmax 0.00424%, nfe); Associated with Inborn genetic diseases.

What condition is associated with RAD51 p.Arg235= (c.705A>T)?

RAD51 p.Arg235= (c.705A>T) is associated with Inborn genetic diseases (ClinVar).

How common is RAD51 p.Arg235= (c.705A>T) in the general population?

RAD51 p.Arg235= (c.705A>T) is very rare (popmax 0.00424%, nfe) (gnomAD).

RAD51 p.Arg235=

c.705A>T · rs761781278 · VCV1756918

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00424%, nfe)

Conditions

Inborn genetic diseases

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 0.058	GERP -0.9, phastCons 0.076
Overall
CADD	9.017	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00424% European (non-Finnish) · 50/1,180,010 alleles

Filtering AF 0.00326% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00294%

Overall 0.0031% 50/1,613,902 alleles · very rare exomes 49/1,461,850 · genomes 1/152,052 · joint denominator

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: RAD51
Protein: p.Arg235=
Coding: c.705A>T
MANE Select: NM_002875
dbSNP: rs761781278
Type: single nucleotide variant
Location: chr15:40729565 (GRCh38)
Gene constraint: LOEUF 0.467 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 91.59 · 52 PDB
Residue 235: the 'interaction with palb2' region; a turn

Full RAD51 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

RAD51 p.Arg235Ter Uncertain significance ★ same residue
RAD51 p.Ala157Thr Uncertain significance ★★ ⚠ same condition
RAD51 p.Ala209Thr Uncertain significance ★★ same condition
RAD51 p.Ala256Thr Uncertain significance ★★ ⚠ same condition
RAD51 p.Ala328Ser Uncertain significance ★★ ⚠ same condition
RAD51 p.Ala79Val Uncertain significance ★★ ⚠ same condition
RAD51 p.Arg130Gly Uncertain significance ★★ ⚠ same condition
RAD51 p.Arg150Trp 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/rad51-p-arg235 (accessed [today's date]).

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