PALB2 S417Y
Gene Variant Detail

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Gene PALB2
Variant S417Y
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions PALB2 S417Y lies within the DNA-binding and chromatin-association motif regions of the Palb2 protein (UniProt.org). S417Y results in reduced chromatin interaction compared to wild-type Palb2 (PMID: 29387807, PMID: 32041954), however, demonstrates Rad51 foci formation and cell survival in response to genotoxic stress similar to wild-type in cultured cells (PMID: 29387807), and does not demonstrate reduced homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31636395, PMID: 31757951), and therefore, is predicted to have no effect on Palb2 protein function.
Associated Drug Resistance
Category Variants Paths

PALB2 mutant PALB2 S417Y

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Transcript NM_024675.4
gDNA chr16:g.23635296G>T
cDNA c.1250C>A
Protein p.S417Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023672.2 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
XM_017023671.1 chr16:g.23635302_23635303delAGinsTA c.1249_1250delAGinsTA p.S417Y RefSeq GRCh38/hg38
NM_001407297.1 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
XM_011545947 chr16:g.23635302_23635303delCTinsTA c.1249_1250delAGinsTA p.S417Y RefSeq GRCh38/hg38
XM_017023671 chr16:g.23635302_23635303delCTinsTA c.1249_1250delAGinsTA p.S417Y RefSeq GRCh38/hg38
XM_011545946.2 chr16:g.23635302_23635303delAGinsTA c.1249_1250delAGinsTA p.S417Y RefSeq GRCh38/hg38
NM_001407300.1 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
XM_017023673.2 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
NM_024675.4 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
NM_001407302.1 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
XM_011545946 chr16:g.23635302_23635303delCTinsTA c.1249_1250delAGinsTA p.S417Y RefSeq GRCh38/hg38
NM_024675 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
XM_017023673 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
NM_001407298.1 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
XM_017023672 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
NM_024675.3 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
NM_001407299.1 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
NM_001407301.1 chr16:g.23635296G>T c.1250C>A p.S417Y RefSeq GRCh38/hg38
XM_011545947.2 chr16:g.23635302_23635303delAGinsTA c.1249_1250delAGinsTA p.S417Y RefSeq GRCh38/hg38

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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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References