Is BARD1 p.Arg52Phe (c.154_155delinsTT) pathogenic?

BARD1 p.Arg52Phe (c.154155delinsTT) is classified Uncertain significance in BARD1 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-03-20). No gnomAD frequency available for this variant; Associated with hereditary breast carcinoma.

What condition is associated with BARD1 p.Arg52Phe (c.154_155delinsTT)?

BARD1 p.Arg52Phe (c.154_155delinsTT) is associated with hereditary breast carcinoma (ClinVar).

How common is BARD1 p.Arg52Phe (c.154_155delinsTT) in the general population?

BARD1 p.Arg52Phe (c.154_155delinsTT) is no gnomAD frequency available for this variant (gnomAD).

How is Hereditary breast cancer inherited?

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

BARD1 p.Arg52Phe

c.154_155delinsTT · rs2469637343 · VCV2846874

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

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 7.3	GERP 0.85, phastCons 1
Regional constraint	o/e 1.06	unconstrained · MANE · 81 kb · p 0.077 · 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: BARD1
Protein: p.Arg52Phe
Coding: c.154_155delinsTT
MANE Select: NM_000465
dbSNP: rs2469637343
Type: Indel
Location: chr2:214809415 (GRCh38)
Gene constraint: LOEUF 1.087 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 64.82 · 11 PDB
Residue 52: a turn; the 'interaction with brca1' region

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.Arg52His Uncertain significance ★★ same residue
BARD1 p.Arg52Pro Uncertain significance ★★ ⚠ same residue
BARD1 p.Ala25fs Pathogenic ★★ same condition
BARD1 p.Glu317fs Pathogenic/Likely pathogenic ★★ same condition
BARD1 p.Val422fs Pathogenic/Likely pathogenic ★★ same condition
BARD1 p.Arg52Ser Uncertain significance ★★ ⚠ same residue
BARD1 p.Asp135Phe Uncertain significance ★★ same condition
BARD1 p.Glu649Leu Uncertain significance ★★ 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-arg52phe (accessed [today's date]).

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