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| Gene | BRIP1 |
| Variant | A745T |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | BRIP1 A745T does not lie within any known functional domains of the Brip1 protein (UniProt.org). A745T does not result in chromosomal aberrations, leads to cell cycle effects similar to wild-type Brip1 upon treatment with DNA damaging agents, and demonstrates resistance to mitomycin treatment in BRIP1-deficient cells in culture (PMID: 31822495), and therefore, is predicted to have no effect on Brip1 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
BRIP1 mutant BRIP1 A745T |
| Transcript | NM_032043.3 |
| gDNA | chr17:g.61744456C>T |
| cDNA | c.2233G>A |
| Protein | p.A745T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_047436897.1 | chr17:g.61744456C>T | c.2233G>A | p.A745T | RefSeq | GRCh38/hg38 |
| XM_047436899.1 | chr17:g.61744456C>T | c.2233G>A | p.A745T | RefSeq | GRCh38/hg38 |
| XM_047436891.1 | chr17:g.61744456C>T | c.2233G>A | p.A745T | RefSeq | GRCh38/hg38 |
| NM_032043 | chr17:g.61744456C>T | c.2233G>A | p.A745T | RefSeq | GRCh38/hg38 |
| XM_047436900.1 | chr17:g.61744456C>T | c.2233G>A | p.A745T | RefSeq | GRCh38/hg38 |
| XM_011525335.4 | chr17:g.61744456C>T | c.2233G>A | p.A745T | RefSeq | GRCh38/hg38 |
| NM_032043.2 | chr17:g.61744456C>T | c.2233G>A | p.A745T | RefSeq | GRCh38/hg38 |
| XM_011525335.3 | chr17:g.61744456C>T | c.2233G>A | p.A745T | RefSeq | GRCh38/hg38 |
| NM_032043.3 | chr17:g.61744456C>T | c.2233G>A | p.A745T | RefSeq | GRCh38/hg38 |
| XM_047436901.1 | chr17:g.61744456C>T | c.2233G>A | p.A745T | RefSeq | GRCh38/hg38 |
| XM_011525335 | chr17:g.61744456C>T | c.2233G>A | p.A745T | RefSeq | GRCh38/hg38 |
| XM_047436892.1 | chr17:g.61744456C>T | c.2233G>A | p.A745T | RefSeq | GRCh38/hg38 |
| XM_047436896.1 | chr17:g.61744456C>T | c.2233G>A | p.A745T | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| BRIP1 mutant | ovarian cancer | not applicable | N/A | Guideline | Risk Factor | Germline BRIP1 mutations are associated with increased risk of developing ovarian cancer (NCCN.org). | detail... |