Is BARD1 p.Val61fs (c.181del) pathogenic?

BARD1 p.Val61fs (c.181del) is classified Pathogenic in BARD1 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2025-10-06). Associated with hereditary neoplastic syndrome.

What condition is associated with BARD1 p.Val61fs (c.181del)?

BARD1 p.Val61fs (c.181del) is associated with hereditary neoplastic syndrome, hereditary breast carcinoma (ClinVar).

BARD1 p.Val61fs

c.181del · VCV3820542

Pathogenic Multiple submitters

Classification

Pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

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 2 of 11
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 11	GERP 2.1, phastCons 1

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

Variant & gene context

Gene: BARD1
Protein: p.Val61fs
Coding: c.181del
MANE Select: NM_000465
Type: Deletion
Location: chr2:214797095 (GRCh38)
Gene constraint: LOEUF 1.087 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 64.82 · 11 PDB
Residue 61: a β-strand; the 'interaction with brca1' region

Full BARD1 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

Also linked: hereditary breast carcinoma

Similar variants

BARD1 p.Val61Met Uncertain significance ★★ ⚠ same residue
BARD1 p.Val61= Benign/Likely benign ★★ same residue
BARD1 p.Val61Leu Uncertain significance ★ ⚠ same residue
BARD1 c.1306_1314+7del Likely pathogenic ★★ same condition
BARD1 c.158+2_158+10del Likely pathogenic ★★ same condition
BARD1 c.1676_1677+23del Likely pathogenic ★★ same condition
BARD1 c.1678-1_1678del Likely pathogenic ★★ same condition
BARD1 c.1865_1903+274del Likely 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-val61fs (accessed [today's date]).

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