Is RAD51D p.Ala95= (c.285T>A) pathogenic?

RAD51D p.Ala95= (c.285T>A) is classified Conflicting classifications of pathogenicity in RAD51D (ClinVar, Conflicting submitters, 2 submitters; last evaluated 2021-03-17). Absent from gnomAD v4.1; Associated with hereditary neoplastic syndrome.

What condition is associated with RAD51D p.Ala95= (c.285T>A)?

RAD51D p.Ala95= (c.285T>A) is associated with hereditary neoplastic syndrome, breast-ovarian cancer, familial, susceptibility to, 4 (ClinVar).

How common is RAD51D p.Ala95= (c.285T>A) in the general population?

RAD51D p.Ala95= (c.285T>A) is absent from gnomAD v4.1 (gnomAD).

RAD51D p.Ala95=

c.285T>A · rs113147933 · VCV821913

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 2 submitters

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/SpliceAI carries the signal.
Splicing
SpliceAI	Δ0.23	acceptor loss · deltas
Pangolin	Δ0.23	loss · gain 0.05 · agrees with SpliceAI · independent
Constraint at this position
Conservation	phyloP 0.36	GERP -2.6, phastCons 0.58
Overall
CADD	6.02	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.Ala95=
Coding: c.285T>A
MANE Select: NM_002878
dbSNP: rs113147933
Type: single nucleotide variant
Location: chr17:35107426 (GRCh38)
Gene constraint: LOEUF 1.092 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 88.64 · 17 PDB
Residue 95: a β-strand

Full RAD51D 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

Also linked: breast-ovarian cancer, familial, susceptibility to, 4

Similar variants

RAD51D p.Ala95Pro Uncertain significance ★ ⚠ same residue
RAD51D p.Ala95Val 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

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-ala95 (accessed [today's date]).

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