PALB2 S172fs
Gene Variant Detail

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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

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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
XM_017023672.2 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_017023673 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_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_024675 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
NM_024675.3 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_001407300.1 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_001407297.1 chr16:g.(23636032_23636033) c.(514_513) p.S172fs RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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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