Is BRCA2 p.Asp2110del (c.6328_6330del) pathogenic?

BRCA2 p.Asp2110del (c.63286330del) is classified Uncertain significance in BRCA2 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-02-25). Associated with hereditary breast ovarian cancer syndrome.

What condition is associated with BRCA2 p.Asp2110del (c.6328_6330del)?

BRCA2 p.Asp2110del (c.6328_6330del) is associated with hereditary breast ovarian cancer syndrome, hereditary neoplastic syndrome (ClinVar).

How is Hereditary breast and/or ovarian cancer syndrome inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

BRCA2 p.Asp2110del

c.6328_6330del · VCV3825449

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

Conditions

hereditary breast ovarian cancer syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.24	GERP -4.3, phastCons 0.023

Variant & gene context

Gene: BRCA2
Protein: p.Asp2110del
Coding: c.6328_6330del
MANE Select: NM_000059
Type: Deletion
Location: chr13:32340682 (GRCh38)
Gene constraint: LOEUF 0.803 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)

Full BRCA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hereditary breast ovarian cancer syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: hereditary neoplastic syndrome

For Hereditary breast and/or ovarian cancer syndrome (Orphanet):

Inheritance: Autosomal dominant
Onset: Adult, Elderly

Similar variants

BRCA2 p.Asp2110delinsValTer Pathogenic ★★ same residue
BRCA2 p.Asp2110Ter Pathogenic ★★ same residue
BRCA2 p.Asp2110Asn Uncertain significance ★★ ⚠ same residue
BRCA2 p.Asp2110= Likely benign ★★ same residue
BRCA2 p.Asp2110Ala Conflicting classifications of pathogenicity ★ ⚠ same residue
BRCA2 p.Asp2110Gly Conflicting classifications of pathogenicity ★ same residue
BRCA2 p.Asp2110His Conflicting classifications of pathogenicity ★ ⚠ same residue
BRCA2 p.Asp2110Val Conflicting classifications of pathogenicity ★ ⚠ same residue

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/brca2-p-asp2110del (accessed [today's date]).

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