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Gene | BARD1 |
Variant | D135N |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | BARD1 D135N lies within the RAD51-interacting domain of the Bard1 protein (PMID: 28976962). D135N results in Brca1 interaction similar to wild-type Bard1 but decreased Rad51 interaction and increased sensitivity to DNA damage upon irradiation in culture and in mouse models (PMID: 33933153). |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 inact mut BARD1 D135N |
Transcript | NM_000465.4 |
gDNA | chr2:g.214781471C>T |
cDNA | c.403G>A |
Protein | p.D135N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017004613.2 | chr2:g.214792357C>T | c.403G>A | p.D135N | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214781471C>T | c.403G>A | p.D135N | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214781471C>T | c.403G>A | p.D135N | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214781471C>T | c.403G>A | p.D135N | RefSeq | GRCh38/hg38 |
XM_017004614.2 | chr2:g.214792357C>T | c.403G>A | p.D135N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BARD1 D135N | breast cancer | predicted - sensitive | Fluzoparib | Preclinical - Cell culture | Actionable | In a preclinical study, Fluzoparib (SHR3162) treatment inhibited proliferation of a BARD1-deficient breast cancer cell line expressing BARD1 D135N in culture (PMID: 33933153). | 33933153 |