Is RAD51C p.Val337= (c.1011A>G) pathogenic?

RAD51C p.Val337= (c.1011A>G) is classified Likely benign in RAD51C (ClinVar, Single submitter, 1 submitter; last evaluated 2021-03-02). Absent from gnomAD v4.1; Associated with hereditary neoplastic syndrome.

What condition is associated with RAD51C p.Val337= (c.1011A>G)?

RAD51C p.Val337= (c.1011A>G) is associated with hereditary neoplastic syndrome (ClinVar).

How common is RAD51C p.Val337= (c.1011A>G) in the general population?

RAD51C p.Val337= (c.1011A>G) is absent from gnomAD v4.1 (gnomAD).

RAD51C p.Val337=

c.1011A>G · rs2144046150 · VCV1729556

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.
REVEL	0.316	indeterminate
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.3	GERP -3.7, phastCons 0.97
Overall
CADD	9.952	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.Val337=
Coding: c.1011A>G
MANE Select: NM_058216
dbSNP: rs2144046150
Type: single nucleotide variant
Location: chr17:58732529 (GRCh38)
Gene constraint: LOEUF 1.139 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 84.23 · 17 PDB
Residue 337: a β-strand

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.Val337Ile Uncertain significance ★★ ⚠ same residue
RAD51C p.Val337Leu Conflicting classifications of pathogenicity ★ ⚠ same residue
RAD51C p.Val337fs Likely pathogenic ★ 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-val337 (accessed [today's date]).

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