Is RAD51 p.Pro24= (c.72C>G) pathogenic?

RAD51 p.Pro24= (c.72C>G) is classified Likely benign in RAD51 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-03-14). Very rare (popmax 0.00133%, afr); Associated with Inborn genetic diseases.

What condition is associated with RAD51 p.Pro24= (c.72C>G)?

RAD51 p.Pro24= (c.72C>G) is associated with Inborn genetic diseases (ClinVar).

How common is RAD51 p.Pro24= (c.72C>G) in the general population?

RAD51 p.Pro24= (c.72C>G) is very rare (popmax 0.00133%, afr) (gnomAD).

RAD51 p.Pro24=

c.72C>G · rs1375618705 · VCV3222868

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00133%, afr)

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 0.21	GERP -3.4, phastCons 0.037
Overall
CADD	8.168	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00133% African / African-American · 1/74,920 alleles

Overall 0.000124% 2/1,613,970 alleles · very rare exomes 1/1,461,772 · genomes 1/152,198 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00133%	74,920
European (non-Finnish)	8.47e-05%	1,179,970

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.Pro24=
Coding: c.72C>G
MANE Select: NM_002875
dbSNP: rs1375618705
Type: single nucleotide variant
Location: chr15:40698830 (GRCh38)
Gene constraint: LOEUF 0.467 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 91.59 · 52 PDB
Residue 24: an α-helix

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.Pro24Ala Uncertain significance ★★ ⚠ same residue
RAD51 p.Pro24Leu Uncertain significance ★ ⚠ same residue
RAD51 p.Pro24Ser 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

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-pro24 (accessed [today's date]).

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