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Gene | RB1 |
Variant | V654fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RB1 V654fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 654 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), V654fs is predicted to lead to a loss Rb1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RB1 mutant RB1 inact mut RB1 V654fs |
Transcript | NM_000321.3 |
gDNA | chr13:g.(48456348_48456349) |
cDNA | c.(1960_1959) |
Protein | p.V654fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000321.3 | chr13:g.(48456348_48456349) | c.(1960_1959) | p.V654fs | RefSeq | GRCh38/hg38 |
NM_000321.2 | chr13:g.(48456348_48456349) | c.(1960_1959) | p.V654fs | RefSeq | GRCh38/hg38 |
NM_001407165.1 | chr13:g.(48456348_48456349) | c.(1960_1959) | p.V654fs | RefSeq | GRCh38/hg38 |
NM_000321 | chr13:g.(48456348_48456349) | c.(1960_1959) | p.V654fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RB1 I101fs RB1 E268* RB1 V654fs RB1 T738_R775del | Her2-receptor negative breast cancer | predicted - resistant | Fulvestrant + Palbociclib | Case Reports/Case Series | Actionable | In a clinical case study, RB1 mutations including E268*, I101fs, T738_R775del, and V654fs were identified in the circulating tumor DNA of a patient with estrogen receptor positive, progesterone receptor positive, and Erbb2 (Her2)-negative, invasive ductal carcinoma at the time of disease progression after 8 months of Ibrance (palbociclib) and Faslodex (fulvestrant) combination treatment (PMID: 29236940). | 29236940 |