Is BRCA2 p.Asn2706fs (c.8117del) pathogenic?

BRCA2 p.Asn2706fs (c.8117del) is classified Pathogenic in BRCA2 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-11-27). Absent from gnomAD; Associated with hereditary neoplastic syndrome.

What condition is associated with BRCA2 p.Asn2706fs (c.8117del)?

BRCA2 p.Asn2706fs (c.8117del) is associated with hereditary neoplastic syndrome (ClinVar).

How common is BRCA2 p.Asn2706fs (c.8117del) in the general population?

BRCA2 p.Asn2706fs (c.8117del) is absent from gnomAD (gnomAD).

BRCA2 p.Asn2706fs

c.8117del · rs2548546440 · VCV3229124

Pathogenic Single submitter

Classification

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

hereditary neoplastic syndrome

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 18 of 27
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.77	GERP 0.38

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: BRCA2
Protein: p.Asn2706fs
Coding: c.8117del
MANE Select: NM_000059
dbSNP: rs2548546440
Type: Deletion
Location: chr13:32363318 (GRCh38)
Gene constraint: LOEUF 0.803 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Residue 2706: a UniProt-annotated variant site (in); the 'interaction with sem1' region

Full BRCA2 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

BRCA2 p.Asn2706= Likely benign ★★★ same residue
BRCA2 p.Asn2706Asp Uncertain significance ★★ ⚠ same residue
BRCA2 p.Asn2706His Uncertain significance ★★ same residue
BRCA2 p.Asn2706Ser Conflicting classifications of pathogenicity ★ ⚠ same residue
BRCA2 p.Asn2706Tyr Uncertain significance ★ same residue
BRCA2 c.5217_5224del Pathogenic ★★★ same condition
BRCA2 c.8312del Pathogenic ★★★ same condition
BRCA2 c.8633-24_8634del 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/brca2-p-asn2706fs (accessed [today's date]).

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