Is RAD51C p.Val28= (c.84G>T) pathogenic?

RAD51C p.Val28= (c.84G>T) is classified Likely benign in RAD51C (ClinVar, Single submitter, 1 submitter; last evaluated 2016-09-08). Absent from gnomAD v4.1; Associated with hereditary neoplastic syndrome.

What condition is associated with RAD51C p.Val28= (c.84G>T)?

RAD51C p.Val28= (c.84G>T) is associated with hereditary neoplastic syndrome (ClinVar).

How common is RAD51C p.Val28= (c.84G>T) in the general population?

RAD51C p.Val28= (c.84G>T) is absent from gnomAD v4.1 (gnomAD).

RAD51C p.Val28=

c.84G>T · rs1555591958 · VCV484743

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

hereditary neoplastic syndrome

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 2	GERP -3.9, phastCons 1
Overall
CADD	9.573	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: RAD51C
Protein: p.Val28=
Coding: c.84G>T
MANE Select: NM_058216
dbSNP: rs1555591958
Type: single nucleotide variant
Location: chr17:58692727 (GRCh38)
Gene constraint: LOEUF 1.139 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 84.23 · 17 PDB
Residue 28: the 'required for holliday junction resolution activity' region; an α-helix

Full RAD51C gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hereditary neoplastic syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

RAD51C p.Val28Met Uncertain significance ★★ ⚠ same residue
RAD51C p.Val28Leu Likely benign ★ same residue
RAD51C p.Val28_Ser29insTrpValLysLeuVal Uncertain significance ★★ same residue
RAD51C c.145+1G>A Pathogenic/Likely pathogenic ★★ same condition
RAD51C c.145+1G>T Pathogenic/Likely pathogenic ★★ same condition
RAD51C c.146-1G>A Likely pathogenic ★★ same condition
RAD51C c.404+1G>A Likely pathogenic ★★ same condition
RAD51C c.404+2T>C Pathogenic/Likely pathogenic ★★ 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/rad51c-p-val28 (accessed [today's date]).

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