Gene Variant Detail

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Gene RB1
Variant H483Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RB1 H483Y lies within domain A of the Rb1 protein (UniProt.org). H483Y has been identified in the scientific literature (PMID: 29236940), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Sep 2020).
Associated Drug Resistance

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Transcript NM_000321.2
gDNA chr13:g.48380190C>T
cDNA c.1447C>T
Protein p.H483Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000321 chr13:g.48380190C>T c.1447C>T p.H483Y RefSeq GRCh38/hg38
NM_000321.2 chr13:g.48380190C>T c.1447C>T p.H483Y RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RB1 H483Y Her2-receptor negative breast cancer predicted - resistant Letrozole + Ribociclib Case Reports/Case Series Actionable In a clinical case study, RB1 H48Y was 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 13 months of Kisqali (ribociclib) and Femara (letrozole) combination treatment (PMID: 29236940). 29236940
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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
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
Molecular Profile Protein Effect Treatment Approaches
RB1 H483Y unknown