Is RAD51 p.Ala337= (c.1011C>T) pathogenic?

RAD51 p.Ala337= (c.1011C>T) is classified Likely benign in RAD51 (ClinVar, Multiple submitters, 4 submitters; last evaluated 2025-11-23). Ultra-rare (popmax 0.0189%, nfe); Associated with Inborn genetic diseases.

What condition is associated with RAD51 p.Ala337= (c.1011C>T)?

RAD51 p.Ala337= (c.1011C>T) is associated with Inborn genetic diseases (ClinVar).

How common is RAD51 p.Ala337= (c.1011C>T) in the general population?

RAD51 p.Ala337= (c.1011C>T) is ultra-rare (popmax 0.0189%, nfe) (gnomAD).

RAD51 p.Ala337=

c.1011C>T · rs202116013 · VCV727973

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

gnomAD v4.1

Rare

ultra-rare (popmax 0.0189%, 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 1.4	GERP 1.8, phastCons 1
Overall
CADD	14.14	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0189% European (non-Finnish) · 223/1,179,988 alleles

Filtering AF 0.0168% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0161%

Overall 0.0151% 244/1,613,888 alleles · ultra-rare exomes 227/1,461,812 · genomes 17/152,076 · joint denominator

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.0189%	5,291
Remaining individualsnot grpmax-eligible	0.0144%	6,942
Admixed American	0.0133%	7,497
African / African-American	0.00534%	18,722

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.Ala337=
Coding: c.1011C>T
MANE Select: NM_002875
dbSNP: rs202116013
Type: single nucleotide variant
Location: chr15:40731169 (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.Ala337Thr 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-ala337 (accessed [today's date]).

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