Is BARD1 p.Ser22fs (c.63_64insCCGCTCCGGGAACGAGCCTCGTT) pathogenic?

BARD1 p.Ser22fs (c.6364insCCGCTCCGGGAACGAGCCTCGTT) is classified Likely pathogenic in BARD1 (ClinVar, Single submitter, 1 submitter; last evaluated 2019-10-10). Associated with BARD1-related disorder.

What condition is associated with BARD1 p.Ser22fs (c.63_64insCCGCTCCGGGAACGAGCCTCGTT)?

BARD1 p.Ser22fs (c.63_64insCCGCTCCGGGAACGAGCCTCGTT) is associated with BARD1-related disorder (ClinVar).

BARD1 p.Ser22fs

c.63_64insCCGCTCCGGGAACGAGCCTCGTT · VCV4959669

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

BARD1-related disorder

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 1 of 11
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.5	GERP 0.93, phastCons 0.89

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

Variant & gene context

Gene: BARD1
Protein: p.Ser22fs
Coding: c.63_64insCCGCTCCGGGAACGAGCCTCGTT
MANE Select: NM_000465
Type: Insertion
Location: chr2:214809506 (GRCh38)
Gene constraint: LOEUF 1.087 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 64.82 · 11 PDB
Residue 22: the 'disordered' region

Full BARD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

BARD1-related disorder

Similar variants

BARD1 p.Ser22Phe Uncertain significance ★★ ⚠ same residue
BARD1 p.Ser22Thr Uncertain significance ★ ⚠ same residue
BARD1 p.Ser22Tyr Uncertain significance ★ ⚠ same residue
BARD1 p.Ser22= Likely benign ★ same residue
BARD1 p.Arg112Ter Pathogenic/Likely pathogenic ★★ same condition
BARD1 p.Gln216fs Pathogenic ★★ same condition
BARD1 p.Glu59fs Pathogenic/Likely pathogenic ★★ same condition
BARD1 p.Arg43Ser 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-ser22fs (accessed [today's date]).

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