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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 |
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 |
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 | Protein Effect | Treatment Approaches |
---|---|---|
RB1 H483Y | unknown |