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Gene | PALB2 |
Variant | S172fs |
Impact List | frameshift |
Protein Effect | loss of function |
Gene Variant Descriptions | PALB2 S172fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 172 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). S172fs confers a loss of function to the Palb2 protein as demonstrated by decreased protein stability and impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951). |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 inact mut PALB2 S172fs |
Transcript | NM_024675.4 |
gDNA | chr16:g.(23636032_23636033) |
cDNA | c.(514_513) |
Protein | p.S172fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001407297.1 | chr16:g.(23636032_23636033) | c.(514_513) | p.S172fs | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.(23636032_23636033) | c.(514_513) | p.S172fs | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.(23636032_23636033) | c.(514_513) | p.S172fs | RefSeq | GRCh38/hg38 |
XM_017023673 | chr16:g.(23636032_23636033) | c.(514_513) | p.S172fs | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.(23636032_23636033) | c.(514_513) | p.S172fs | RefSeq | GRCh38/hg38 |
NM_024675 | chr16:g.(23636032_23636033) | c.(514_513) | p.S172fs | RefSeq | GRCh38/hg38 |
NM_024675.3 | chr16:g.(23636032_23636033) | c.(514_513) | p.S172fs | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.(23636032_23636033) | c.(514_513) | p.S172fs | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.(23636032_23636033) | c.(514_513) | p.S172fs | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.(23636032_23636033) | c.(514_513) | p.S172fs | RefSeq | GRCh38/hg38 |
XM_017023672 | chr16:g.(23636032_23636033) | c.(514_513) | p.S172fs | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.(23636032_23636033) | c.(514_513) | p.S172fs | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.(23636032_23636033) | c.(514_513) | p.S172fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PALB2 S172fs | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, treatment with Lynparza (olaparib) resulted in decreased survival of TP53-knockout cells expressing PALB2 S172fs in culture (PMID: 31757951). | 31757951 |