Is BARD1 p.Pro24Ser (c.69_70delinsAT) pathogenic?

BARD1 p.Pro24Ser (c.6970delinsAT) is classified Likely benign in BARD1 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-07-19). No gnomAD frequency available for this variant; Associated with hereditary breast carcinoma.

What condition is associated with BARD1 p.Pro24Ser (c.69_70delinsAT)?

BARD1 p.Pro24Ser (c.69_70delinsAT) is associated with hereditary breast carcinoma (ClinVar).

How common is BARD1 p.Pro24Ser (c.69_70delinsAT) in the general population?

BARD1 p.Pro24Ser (c.69_70delinsAT) 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.Pro24Ser

c.69_70delinsAT · rs2106171516 · VCV1544050

Likely benign Single submitter

Classification

Likely benign

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 0.96	GERP 1.8, phastCons 0.77
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.Pro24Ser
Coding: c.69_70delinsAT
MANE Select: NM_000465
dbSNP: rs2106171516
Type: Indel
Location: chr2:214809500 (GRCh38)
Gene constraint: LOEUF 1.087 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 64.82 · 11 PDB
Residue 24: a UniProt-annotated variant site (in); the 'disordered' 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.Pro24_Ala25delinsSerPro Conflicting classifications of pathogenicity ★ same residue
BARD1 p.Pro24= Benign/Likely benign ★★ same residue
BARD1 p.Pro24Arg Conflicting classifications of pathogenicity ★ ⚠ same residue
BARD1 p.Pro24delinsAsnGluProArgSerAlaSer 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.Asp135Phe 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-pro24ser (accessed [today's date]).

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