Is RAD51D p.Ala80= (c.240C>A) pathogenic?

RAD51D p.Ala80= (c.240C>A) is classified Benign/Likely benign in RAD51D (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-02-20). Absent from gnomAD v4.1; Associated with breast-ovarian cancer, familial, susceptibility to, 4.

What condition is associated with RAD51D p.Ala80= (c.240C>A)?

RAD51D p.Ala80= (c.240C>A) is associated with breast-ovarian cancer, familial, susceptibility to, 4 (ClinVar).

How common is RAD51D p.Ala80= (c.240C>A) in the general population?

RAD51D p.Ala80= (c.240C>A) is absent from gnomAD v4.1 (gnomAD).

RAD51D p.Ala80=

c.240C>A · rs2142473765 · VCV1153453

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, 4

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 1.4, phastCons 1
Overall
CADD	10.39	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: RAD51D
Protein: p.Ala80=
Coding: c.240C>A
MANE Select: NM_002878
dbSNP: rs2142473765
Type: single nucleotide variant
Location: chr17:35118524 (GRCh38)
Gene constraint: LOEUF 1.092 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 88.64 · 17 PDB
Residue 80: the 'preferentially binds ssdna' region

Full RAD51D gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

breast-ovarian cancer, familial, susceptibility to, 4 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

RAD51D p.Ala80Val Uncertain significance ★★ ⚠ same residue
RAD51D c.144+1G>T Pathogenic/Likely pathogenic ★★ same condition
RAD51D c.145-2A>G Likely pathogenic ★★ same condition
RAD51D c.264-1G>T Likely pathogenic ★★ same condition
RAD51D c.264-2A>G Pathogenic/Likely pathogenic ★★ same condition
RAD51D c.346-1G>C Pathogenic/Likely pathogenic ★★ same condition
RAD51D c.480+1G>T Likely pathogenic ★★ same condition
RAD51D c.481-1G>A 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/rad51d-p-ala80 (accessed [today's date]).

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