Is BARD1 p.Arg370fs (c.1108del) pathogenic?

BARD1 p.Arg370fs (c.1108del) is classified Pathogenic in BARD1 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-09-12). Associated with hereditary breast ovarian cancer syndrome.

What condition is associated with BARD1 p.Arg370fs (c.1108del)?

BARD1 p.Arg370fs (c.1108del) is associated with hereditary breast ovarian cancer 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.

BARD1 p.Arg370fs

c.1108del · VCV3374858

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

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.
Consequence	frameshift	predicted loss-of-function in a haploinsufficient gene (ClinGen)
NMD	predicted	premature termination codon in exon 4 of 11
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP -1.1	GERP -4

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

Variant & gene context

Gene: BARD1
Protein: p.Arg370fs
Coding: c.1108del
MANE Select: NM_000465
Type: Deletion
Location: chr2:214780766 (GRCh38)
Gene constraint: LOEUF 1.087 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 64.82 · 11 PDB
Residue 370: the 'disordered' region

Full BARD1 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

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

Inheritance: Autosomal dominant
Onset: Adult, Elderly

Similar variants

BARD1 p.Gln11_Arg15del Uncertain significance ★★ same condition
BARD1 c.1396-22del Likely benign ★★ same condition
BARD1 c.215+59_215+60del Likely benign ★★ same condition
BARD1 c.215+68del Benign ★★ same condition
BARD1 p.Leu359_Pro365del Benign/Likely benign ★★ same condition
BARD1 p.Ser131fs Pathogenic ★ same condition
BARD1 p.4_8NRQPR[1] Conflicting classifications of pathogenicity ★ same condition
BARD1 p.Arg370Cys 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/bard1-p-arg370fs (accessed [today's date]).

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