Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | BARD1 |
Variant | I69M |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | BARD1 I69M lies within the RING-type zinc finger domain and BRCA1-interacting region of the Bard1 protein (UniProt.org). I69M demonstrates homology-directed DNA repair activity similar to wild-type Bard1 in culture (PMID: 30925164), and therefore, is predicted to have no effect on Bard1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
BARD1 mutant BARD1 I69M |
Transcript | NM_000465.4 |
gDNA | chr2:g.214797069G>C |
cDNA | c.207C>G |
Protein | p.I69M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017004614 | chr2:g.214797069G>C | c.207C>G | p.I69M | RefSeq | GRCh38/hg38 |
XM_017004613 | chr2:g.214797069G>C | c.207C>G | p.I69M | RefSeq | GRCh38/hg38 |
NM_001282545.1 | chr2:g.214797069G>C | c.207C>G | p.I69M | RefSeq | GRCh38/hg38 |
XM_017004614.2 | chr2:g.214797069G>C | c.207C>G | p.I69M | RefSeq | GRCh38/hg38 |
NM_001282545 | chr2:g.214797069G>C | c.207C>G | p.I69M | RefSeq | GRCh38/hg38 |
NM_000465.3 | chr2:g.214797069G>C | c.207C>G | p.I69M | RefSeq | GRCh38/hg38 |
NM_000465 | chr2:g.214797069G>C | c.207C>G | p.I69M | RefSeq | GRCh38/hg38 |
XM_017004613.2 | chr2:g.214797069G>C | c.207C>G | p.I69M | RefSeq | GRCh38/hg38 |
XM_017004613.1 | chr2:g.214797069G>C | c.207C>G | p.I69M | RefSeq | GRCh38/hg38 |
NM_001282549.2 | chr2:g.214797069G>C | c.207C>G | p.I69M | RefSeq | GRCh38/hg38 |
XM_047445350.1 | chr2:g.214797069G>C | c.207C>G | p.I69M | RefSeq | GRCh38/hg38 |
NM_000465.4 | chr2:g.214797069G>C | c.207C>G | p.I69M | RefSeq | GRCh38/hg38 |
XM_017004614.1 | chr2:g.214797069G>C | c.207C>G | p.I69M | RefSeq | GRCh38/hg38 |
NM_001282549 | chr2:g.214797069G>C | c.207C>G | p.I69M | RefSeq | GRCh38/hg38 |
NM_001282549.1 | chr2:g.214797069G>C | c.207C>G | p.I69M | RefSeq | GRCh38/hg38 |
NM_001282545.2 | chr2:g.214797069G>C | c.207C>G | p.I69M | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|