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Gene PALB2
Variant Y1108fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PALB2 Y1108fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 1108 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). Y1108fs results in impaired homology-directed DNA repair activity similar to wild-type Palb2 in cultured cells lacking Tp53 (PMID: 31636395), and therefore, is predicted to lead to a loss of protein function.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 inact mut PALB2 Y1108fs

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Transcript NM_024675.4
gDNA chr16:g.(23607892_23607893)
cDNA c.(3322_3321)
Protein p.Y1108fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023671 chr16:g.(23603467_23603468) c.(3322_3321) p.Y1108fs RefSeq GRCh38/hg38
NM_024675.3 chr16:g.(23607892_23607893) c.(3322_3321) p.Y1108fs RefSeq GRCh38/hg38
XM_017023671.1 chr16:g.(23603467_23603468) c.(3322_3321) p.Y1108fs RefSeq GRCh38/hg38
NM_024675.4 chr16:g.(23607892_23607893) c.(3322_3321) p.Y1108fs RefSeq GRCh38/hg38
NM_024675 chr16:g.(23607892_23607893) c.(3322_3321) p.Y1108fs RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PALB2 Y1108fs nephroblastoma sensitive Talazoparib Preclinical - Cell line xenograft Actionable In a preclinical study, a Wilms tumor cell line and xenograft model harboring PALB2 Y1108fs demonstrated a complete response to Talzenna (talazoparib) (PMID: 25263539). 25263539