Is BRCC3 p.Ser227= (c.681C>T) pathogenic?

BRCC3 p.Ser227= (c.681C>T) is classified Likely benign in BRCC3 (ClinVar, Single submitter, 1 submitter; last evaluated 2026-03-02). No allele count reported in gnomAD v4.1 (AN 1,172,338).

How common is BRCC3 p.Ser227= (c.681C>T) in the general population?

BRCC3 p.Ser227= (c.681C>T) is no allele count reported in gnomAD v4.1 (AN 1,172,338) (gnomAD).

BRCC3 p.Ser227=

c.681C>T · VCV4840777

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,172,338)

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 2.1	GERP -0.5, phastCons 1
Overall
CADD	12.64	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,172,338). 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: BRCC3
Protein: p.Ser227=
Coding: c.681C>T
MANE Select: NM_001018055
Type: single nucleotide variant
Location: chrX:155116711 (GRCh38)
Structure: AlphaFold pLDDT 84.68 · 12 PDB
Residue 227: an α-helix

Full BRCC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

BRCC3 p.Val202Ala Uncertain significance ★★ ⚠ same type
BRCC3 p.Gln147Arg Uncertain significance ★ ⚠ same type
BRCC3 p.Ile187Met Uncertain significance ★ ⚠ same type
BRCC3 p.Leu273Phe Uncertain significance ★ ⚠ same type
BRCC3 p.Met59Val Uncertain significance ★ ⚠ same type
BRCC3 p.Thr46Lys Uncertain significance ★ ⚠ same type
BRCC3 c.403+205A>G Likely benign ★ same type
BRCC3 c.681-9A>G Benign ★ same type

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/brcc3-p-ser227 (accessed [today's date]).

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