Is RAD51C p.Pro299fs (c.894dup) pathogenic?

RAD51C p.Pro299fs (c.894dup) is classified Likely pathogenic in RAD51C (ClinVar, Single submitter, 1 submitter; last evaluated 2022-10-13). No gnomAD frequency available for this variant; Associated with Fanconi anemia complementation group O.

What condition is associated with RAD51C p.Pro299fs (c.894dup)?

RAD51C p.Pro299fs (c.894dup) is associated with Fanconi anemia complementation group O (ClinVar).

How common is RAD51C p.Pro299fs (c.894dup) in the general population?

RAD51C p.Pro299fs (c.894dup) is no gnomAD frequency available for this variant (gnomAD).

RAD51C p.Pro299fs

c.894dup · rs2048893092 · VCV949689

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Fanconi anemia complementation group O

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 6 of 9
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 5.1	GERP -2.9, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: RAD51C
Protein: p.Pro299fs
Coding: c.894dup
MANE Select: NM_058216
dbSNP: rs2048893092
Type: Duplication
Location: chr17:58720800 (GRCh38)
Gene constraint: LOEUF 1.139 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 84.23 · 17 PDB
Residue 299: a β-strand

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

Disease context

Fanconi anemia complementation group O — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

RAD51C p.Pro299Arg Uncertain significance ★★ ⚠ same residue
RAD51C p.Pro299Leu Uncertain significance ★★ ⚠ same residue
RAD51C p.Pro299Ala Uncertain significance ★ same residue
RAD51C p.Pro299Ser Uncertain significance ★ ⚠ same residue
RAD51C p.Arg168fs Pathogenic ★★ same condition
RAD51C p.Asn263fs Pathogenic ★★ same condition
RAD51C p.Cys176fs Pathogenic ★★ same condition
RAD51C p.Glu80Ter 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-pro299fs (accessed [today's date]).

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