Is BARD1 p.Ala613= (c.1839A>C) pathogenic?

BARD1 p.Ala613= (c.1839A>C) is classified Likely benign in BARD1 (ClinVar, Multiple submitters, 2 submitters; last evaluated 2026-05-14). Absent from gnomAD v4.1; Associated with hereditary neoplastic syndrome.

What condition is associated with BARD1 p.Ala613= (c.1839A>C)?

BARD1 p.Ala613= (c.1839A>C) is associated with hereditary neoplastic syndrome, hereditary breast carcinoma (ClinVar).

How common is BARD1 p.Ala613= (c.1839A>C) in the general population?

BARD1 p.Ala613= (c.1839A>C) is absent from gnomAD v4.1 (gnomAD).

BARD1 p.Ala613=

c.1839A>C · rs2469338246 · VCV2905096

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

hereditary neoplastic syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal.
Splicing
SpliceAI	Δ0.25	acceptor loss, 2 bp away · masked 0 · deltas
Constraint at this position
Conservation	phyloP 0.41	GERP 0.85, phastCons 0.006
Overall
CADD	6.13	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: BARD1
Protein: p.Ala613=
Coding: c.1839A>C
MANE Select: NM_000465
dbSNP: rs2469338246
Type: single nucleotide variant
Location: chr2:214745131 (GRCh38)
Gene constraint: LOEUF 1.087 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 64.82 · 11 PDB
Residue 613: the brct 1 domain; a β-strand

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.Ala613Gly Uncertain significance ★★ ⚠ same residue
BARD1 p.Ala613Glu Conflicting classifications of pathogenicity ★ ⚠ same residue
BARD1 p.Ala613Val Uncertain significance ★ ⚠ same residue
BARD1 p.Ala613Ser Likely benign ★ same residue
BARD1 p.Ala613Thr Likely benign ★ same residue
BARD1 c.1314+1G>A Pathogenic/Likely pathogenic ★★ same condition
BARD1 c.1314+1G>T Likely pathogenic ★★ same condition
BARD1 c.1396-1G>A 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-ala613 (accessed [today's date]).

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