Is RAD51C p.Arg7= (c.21C>T) pathogenic?

RAD51C p.Arg7= (c.21C>T) is classified Benign/Likely benign in RAD51C (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-02-14). Absent from gnomAD v4.1; Associated with breast-ovarian cancer, familial, susceptibility to, 3.

How common is RAD51C p.Arg7= (c.21C>T) in the general population?

RAD51C p.Arg7= (c.21C>T) is absent from gnomAD v4.1 (gnomAD).

RAD51C p.Arg7=

Q: What condition is associated with RAD51C p.Arg7= (c.21C>T)?

RAD51C p.Arg7= (c.21C>T) is associated with breast-ovarian cancer, familial, susceptibility to, 3, hereditary neoplastic syndrome (ClinVar).

c.21C>T · rs1443654986 · VCV629771

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

breast-ovarian cancer, familial, susceptibility to, 3

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 -1.2	GERP -4
Overall
CADD	7.996	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.Arg7=
Coding: c.21C>T
MANE Select: NM_058216
dbSNP: rs1443654986
Type: single nucleotide variant
Location: chr17:58692664 (GRCh38)
Gene constraint: LOEUF 1.139 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 84.23 · 17 PDB
Residue 7: the 'required for holliday junction resolution activity' region

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

Disease context

breast-ovarian cancer, familial, susceptibility to, 3 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: hereditary neoplastic syndrome

Similar variants

RAD51C p.Arg7Cys Conflicting classifications of pathogenicity ★ ⚠ same residue
RAD51C p.Arg7Gly Conflicting classifications of pathogenicity ★ ⚠ same residue
RAD51C p.Arg7His Conflicting classifications of pathogenicity ★ ⚠ same residue
RAD51C p.Arg7Pro Conflicting classifications of pathogenicity ★ ⚠ same residue
RAD51C p.Arg7Ser Conflicting classifications of pathogenicity ★ ⚠ same residue
RAD51C p.Arg7Leu Uncertain significance ★ ⚠ same residue
RAD51C c.145+1G>A Pathogenic/Likely pathogenic ★★ same condition
RAD51C c.145+1G>T 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-arg7 (accessed [today's date]).

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