Is RAD51 p.Pro147= (c.441C>T) pathogenic?

RAD51 p.Pro147= (c.441C>T) is classified Likely benign in RAD51 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-05-21). No allele count reported in gnomAD v4.1 (AN 1,608,716); Associated with Inborn genetic diseases.

What condition is associated with RAD51 p.Pro147= (c.441C>T)?

RAD51 p.Pro147= (c.441C>T) is associated with Inborn genetic diseases (ClinVar).

How common is RAD51 p.Pro147= (c.441C>T) in the general population?

RAD51 p.Pro147= (c.441C>T) is no allele count reported in gnomAD v4.1 (AN 1,608,716) (gnomAD).

RAD51 p.Pro147=

c.441C>T · rs2504485654 · VCV2560848

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,608,716)

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 -0.006	GERP -3.1, phastCons 0.79
Overall
CADD	8.166	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,608,716). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: RAD51
Protein: p.Pro147=
Coding: c.441C>T
MANE Select: NM_002875
dbSNP: rs2504485654
Type: single nucleotide variant
Location: chr15:40718810 (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.Pro147Thr 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-pro147 (accessed [today's date]).

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