Is RAD51 p.Ala44= (c.132T>C) pathogenic?

RAD51 p.Ala44= (c.132T>C) is classified Likely benign in RAD51 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-01-05). Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with RAD51 p.Ala44= (c.132T>C)?

RAD51 p.Ala44= (c.132T>C) is associated with Inborn genetic diseases (ClinVar).

How common is RAD51 p.Ala44= (c.132T>C) in the general population?

RAD51 p.Ala44= (c.132T>C) is absent from gnomAD v4.1 (gnomAD).

RAD51 p.Ala44=

c.132T>C · rs1894959322 · VCV1770122

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

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 0.38	GERP 0.67, phastCons 1
Overall
CADD	11.23	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: RAD51
Protein: p.Ala44=
Coding: c.132T>C
MANE Select: NM_002875
dbSNP: rs1894959322
Type: single nucleotide variant
Location: chr15:40701108 (GRCh38)
Gene constraint: LOEUF 0.467 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 91.59 · 52 PDB

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.Ala44Gly Uncertain significance ★ ⚠ same residue
RAD51 p.Ala44Val 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

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-ala44 (accessed [today's date]).

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