Gene Variant Detail

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Gene RB1
Variant K319Nfs*13
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions RB1 K319Nfs*13 indicates a shift in the reading frame starting at amino acid 319 and terminating 13 residues downstream causing a premature truncation of the 928 amino acid Rb1 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K319Nfs*13 is predicted to lead to a loss of Rb1 function.
Associated Drug Resistance
Category Variants Paths

RB1 mutant RB1 inact mut RB1 K319Nfs*13

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Transcript NM_000321.3
gDNA chr13:g.48367511delA
cDNA c.957delA
Protein p.K319Nfs*13
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000321.2 chr13:g.48367511delA c.957delA p.K319Nfs*13 RefSeq GRCh38/hg38
NM_000321 chr13:g.48367508delT c.954delT p.K319Nfs*13 RefSeq GRCh38/hg38
NM_000321.3 chr13:g.48367511delA c.957delA p.K319Nfs*13 RefSeq GRCh38/hg38
NM_001407165.1 chr13:g.48367511delA c.957delA p.K319Nfs*13 RefSeq GRCh38/hg38
NM_001407166.1 chr13:g.48367511delA c.957delA p.K319Nfs*13 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RB1 inact mut glioblastoma resistant Palbociclib Preclinical - Cell line xenograft Actionable In a preclinical study, Ibrance (palbociclib) failed to inhibit growth of RB1-deficient glioblastoma cell lines in culture and in intracranial cell line xenograft models (PMID: 20354191). 20354191
RB1 inact mut retinoblastoma sensitive Fostamatinib Preclinical Actionable In a preclinical study, retinoblastoma cell lines demonstrated sensitivity to Fostamatinib resulting in cell death (PMID: 22237022). 22237022
RB1 inact mut retinoblastoma sensitive Nutlin-3a Preclinical Actionable In a preclinical study, Nutlin-3a induced p53 pathway signaling in MDMX mouse models with retinoblastoma and 69% (70/102) of the eyes harvested from the mouse models demonstrated complete response or stable disease after 18 weeks of therapy (PMID: 21515735). 21515735
RB1 inact mut retinoblastoma sensitive BAY 61-3606 Preclinical Actionable In a preclinical study, a retinoblastoma cell line was sensitive to BAY 61-3606 in cell culture and in xenograft models, demonstrating increased apoptosis (PMID: 22237022). 22237022
RB1 mutant estrogen-receptor positive breast cancer predicted - resistant Palbociclib Phase III Actionable In a Phase III trial (PALOMA-3), acquired RB1 mutations were identified in patents with ER-positive, ERBB2 (HER2)-negative breast cancer at the end of treatment in the Faslodex (fulvestrant) plus Ibrance (palbociclib) but not the Faslodex (fulvestrant) plus placebo arm, suggesting a role in conferring resistance to Ibrance (palbociclib) (PMID: 30206110; NCT01942135). 30206110
RB1 mutant osteosarcoma sensitive VCN-01 Preclinical - Cell line xenograft Actionable In a preclinical study, VCN-01 decreased viability of a human RB1-mutant primary osteosarcoma cell line in culture, and inhibited tumor growth and decreased lung metastases in xenograft models (PMID: 26603261). 26603261