Is BARD1 p.Ala485fs (c.1450_1451dup) pathogenic?

BARD1 p.Ala485fs (c.14501451dup) is classified Likely pathogenic in BARD1 (ClinVar, Single submitter, 1 submitter). Associated with hereditary breast carcinoma.

What condition is associated with BARD1 p.Ala485fs (c.1450_1451dup)?

BARD1 p.Ala485fs (c.1450_1451dup) is associated with hereditary breast carcinoma (ClinVar).

How is Hereditary breast cancer inherited?

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

BARD1 p.Ala485fs

c.1450_1451dup · VCV3382148

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

hereditary breast carcinoma

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 6 of 11
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -0.13	GERP -2.9, phastCons 0.28

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: BARD1
Protein: p.Ala485fs
Coding: c.1450_1451dup
MANE Select: NM_000465
Type: Duplication
Location: chr2:214767598 (GRCh38)
Gene constraint: LOEUF 1.087 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 64.82 · 11 PDB

Full BARD1 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

For Hereditary breast cancer (Orphanet):

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

Similar variants

BARD1 p.Ala485Gly Uncertain significance ★★ ⚠ same residue
BARD1 p.Ala485Val Uncertain significance ★★ ⚠ same residue
BARD1 p.Ala485= Benign/Likely benign ★★ same residue
BARD1 p.Ala173fs Pathogenic ★★ same condition
BARD1 p.Ala200fs Pathogenic ★★ same condition
BARD1 p.Ala589fs Pathogenic ★★ same condition
BARD1 p.Asn450fs Pathogenic/Likely pathogenic ★★ same condition
BARD1 p.Asn549fs 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/bard1-p-ala485fs (accessed [today's date]).

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