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| Gene | BARD1 |
| Variant | R529Q |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BARD1 R529Q lies within ANK repeat 4 of the Bard1 protein (UniProt.org). R529Q has been identified in sequencing studies (PMID: 33933153), but has not been biochemically characterized and therefore, its effect on Bard1 protein function is unknown (PubMed, Feb 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
BARD1 mutant BARD1 R529Q |
| Transcript | NM_000465.4 |
| gDNA | chr2:g.214752538C>T |
| cDNA | c.1586G>A |
| Protein | p.R529Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047445350.1 | chr2:g.214752538C>T | c.1586G>A | p.R529Q | RefSeq | GRCh38/hg38 |
| NM_000465.4 | chr2:g.214752538C>T | c.1586G>A | p.R529Q | RefSeq | GRCh38/hg38 |
| NM_000465.3 | chr2:g.214752538C>T | c.1586G>A | p.R529Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|