Is BRCA2 p.Arg1471Ile (c.4410_4412delinsCAT) pathogenic?

BRCA2 p.Arg1471Ile (c.44104412delinsCAT) is classified Conflicting classifications of pathogenicity in BRCA2 (ClinVar, Conflicting submitters, 6 submitters; last evaluated 2024-02-18). Absent from gnomAD; Associated with hereditary breast carcinoma.

What condition is associated with BRCA2 p.Arg1471Ile (c.4410_4412delinsCAT)?

BRCA2 p.Arg1471Ile (c.4410_4412delinsCAT) is associated with hereditary breast carcinoma, medulloblastoma, Wilms tumor 1 (ClinVar).

How common is BRCA2 p.Arg1471Ile (c.4410_4412delinsCAT) in the general population?

BRCA2 p.Arg1471Ile (c.4410_4412delinsCAT) is absent from gnomAD (gnomAD).

How is Hereditary breast cancer inherited?

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

BRCA2 p.Arg1471Ile

c.4410_4412delinsCAT · rs786202031 · VCV185249

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 6 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

hereditary breast carcinoma

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 3.8	GERP -1.9, phastCons 0.56
Regional constraint	o/e 1.03	unconstrained · MANE · 47 kb · p 0.059 · regional, not allelic

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.Arg1471Ile
Coding: c.4410_4412delinsCAT
MANE Select: NM_000059
dbSNP: rs786202031
Type: Indel
Location: chr13:32338765 (GRCh38)
Gene constraint: LOEUF 0.803 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Residue 1471: the 'interaction with rad51' region; the 'interaction with polh' region; the 'required for stimulation of polh dna polymerization activity' region

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

Disease context

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

Also linked: medulloblastoma Wilms tumor 1 Fanconi anemia complementation group D1 breast-ovarian cancer, familial, susceptibility to, 2 glioma susceptibility 3 pancreatic cancer, susceptibility to, 2 hereditary neoplastic syndrome prostate cancer, hereditary

For Hereditary breast cancer (Orphanet):

Inheritance: Autosomal dominant, Multigenic/multifactorial
Onset: Adult, Elderly

Similar variants

BRCA2 p.Arg1471Ter Pathogenic ★★ same residue
BRCA2 p.Arg1471fs Pathogenic ★ same residue
BRCA2 p.Arg1471del Conflicting classifications of pathogenicity ★ same residue
BRCA2 p.Arg1471Lys Uncertain significance ★ ⚠ same residue
BRCA2 p.Arg1471Thr Conflicting classifications of pathogenicity ★ same residue
BRCA2 c.1587delinsCA Pathogenic ★★★ same condition
BRCA2 c.277_317-726delinsCCAT Pathogenic ★★★ same condition
BRCA2 c.7734_7739delAATACAinsCTGATGGTG 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-arg1471ile (accessed [today's date]).

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