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Gene | RAD51B |
Variant | V207L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RAD51B V207L does not lie within any known functional domains of the Rad51b protein (UniProt.org). V207L has been identified in sequencing studies (PMID: 26261251, PMID: 32659497), but has not been biochemically characterized and therefore, its effect on Rad51b protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51B mutant RAD51B V207L |
Transcript | NM_133509.5 |
gDNA | chr14:g.67887067G>C |
cDNA | c.619G>C |
Protein | p.V207L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011537050.3 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_001321810.1 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_001321812.1 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_001321821.1 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_001321818.1 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_133509.5 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_001321819.1 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_001321821.2 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_001321818.2 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_002877.6 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_001321819.1 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_133510.4 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_133509.3 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_001321814.1 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_001321810.2 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_133510.3 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_001321809.1 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
XM_017021545.2 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_002877.5 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_001321814.2 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_001321812.1 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
NM_001321809.2 | chr14:g.67887067G>C | c.619G>C | p.V207L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RAD51B mutant | ovary serous adenocarcinoma | predicted - sensitive | Cediranib + Olaparib | Clinical Study - Cohort | Actionable | In a Phase II trial, Cediranib (AZD-2171) and Lynparza (olaparib) treatment was well tolerated, and resulted in an objective response (OR) of 9% (all partial), a 16-week progression-free survival (PFS) of 47%, and a disease control rate (DCR) of 68% in heavily pretreated high-grade serous ovarian cancer patients (n=34), and a median PFS of 4.8 months in patients (n=14) harboring mutations in either BRCA1, BRCA2, or RAD51B (PMID: 32444417; NCT02681237). | 32444417 |