Is RAD51 p.Asp37= (c.111T>C) pathogenic?

RAD51 p.Asp37= (c.111T>C) is classified Likely benign in RAD51 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-12-23). Very rare (popmax 0.00133%, afr); Associated with Inborn genetic diseases.

What condition is associated with RAD51 p.Asp37= (c.111T>C)?

RAD51 p.Asp37= (c.111T>C) is associated with Inborn genetic diseases (ClinVar).

How common is RAD51 p.Asp37= (c.111T>C) in the general population?

RAD51 p.Asp37= (c.111T>C) is very rare (popmax 0.00133%, afr) (gnomAD).

RAD51 p.Asp37=

c.111T>C · rs2504414592 · VCV1797459

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	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 0.59	GERP 0.62, phastCons 1
Overall
CADD	9.897	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00133% African / African-American · 1/75,066 alleles

Overall 6.19e-05% 1/1,614,244 alleles · very rare exomes 1/1,461,882 · genomes 0/152,362 · 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.Asp37=
Coding: c.111T>C
MANE Select: NM_002875
dbSNP: rs2504414592
Type: single nucleotide variant
Location: chr15:40701087 (GRCh38)
Gene constraint: LOEUF 0.467 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 91.59 · 52 PDB
Residue 37: 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.Asp37His Uncertain significance ★ ⚠ same residue
RAD51 p.Asp37Val Uncertain significance ★ ⚠ same residue
RAD51 p.Asp37Asn 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-asp37 (accessed [today's date]).

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