Is RAD51B p.Ser102= (c.306C>T) pathogenic?

RAD51B p.Ser102= (c.306C>T) is classified Likely benign in RAD51B (ClinVar, Single submitter, 1 submitter; last evaluated 2024-11-22). Very rare (popmax 0.0033%, sas).

How common is RAD51B p.Ser102= (c.306C>T) in the general population?

RAD51B p.Ser102= (c.306C>T) is very rare (popmax 0.0033%, sas) (gnomAD).

RAD51B p.Ser102=

c.306C>T · VCV3429633

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.0033%, sas)

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 0.11	GERP 1.9, phastCons 0.93
Overall
CADD	8.476	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0033% South Asian · 3/91,022 alleles

Filtering AF 0.000876% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000443%

Overall 0.00031% 5/1,612,600 alleles · very rare exomes 5/1,460,440 · genomes 0/152,160 · joint denominator

Ancestry group	Frequency	1 in
South Asiangrpmax	0.0033%	30,341
Remaining individualsnot grpmax-eligible	0.0016%	62,476
European (non-Finnish)	8.48e-05%	1,178,764

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: RAD51B
Protein: p.Ser102=
Coding: c.306C>T
MANE Select: NM_133510
Type: single nucleotide variant
Location: chr14:67835187 (GRCh38)
Gene constraint: LOEUF 1.247 · pLI <0.01 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 79.50 · 5 PDB

Full RAD51B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

RAD51B p.Ser102Phe Uncertain significance ★ same residue
RAD51B p.Ser102Thr Uncertain significance ★ ⚠ same residue
RAD51B c.315+2T>A Uncertain significance ★★ same type
RAD51B p.Ala146Thr Uncertain significance ★★ ⚠ same type
RAD51B p.Ala268Pro Uncertain significance ★★ ⚠ same type
RAD51B p.Arg47Ter Uncertain significance ★★ same type
RAD51B p.Pro326Ala Uncertain significance ★★ same type
RAD51B p.Tyr68Cys Uncertain significance ★★ ⚠ same type

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/rad51b-p-ser102 (accessed [today's date]).

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