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Gene Symbol PALB2
Synonyms BROVCA5 | FANCN | PNCA3
Gene Description PALB2, partner and localizer of BRCA2, recruits Brca2 and Rad51 to repair DNA through homologous recombination (PMID: 24998779, PMID: 30638972). PALB2 loss of function mutations have been linked to hereditary breast cancer (PMID: 25135369) and male breast cancer (PMID: 31067289).
ACMG Incidental List v3.0:
Yes, Hereditary breast cancer (PMID: 34012068)
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
79728 16 16p12.2 NM_024675 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
C882fs frameshift loss of function - predicted PALB2 C882fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 882 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). C882fs results in impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), and therefore, is predicted to lead to a loss of Palb2 protein function.
E669fs frameshift loss of function - predicted PALB2 E669fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 669 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). E669fs results in protein expression similar to wild-type Palb2, however, demonstrates impaired homology-directed DNA repair activity compared to wild-type in cultured cells lacking Tp53 (PMID: 31757951), and therefore, is predicted to lead to a loss of Palb2 protein function.
F440fs frameshift loss of function - predicted PALB2 F440fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 440 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). F440fs has not been characterized however, due to the effects of other truncation mutations downstream of F440 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
inact mut unknown loss of function PALB2 inact mut indicates that this variant results in a loss of function of the Palb2 protein. However, the specific amino acid change has not been identified.
K908fs frameshift loss of function - predicted PALB2 K908fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 908 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). K908fs has not been characterized however, due to the effects of other truncation mutations downstream of K908 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
mutant unknown unknown PALB2 mutant indicates an unspecified mutation in the PALB2 gene.
R131fs frameshift loss of function - predicted PALB2 R131fs results in a change in the amino acid sequence of the Palb2 protein beginning at aa 131 of 1186, likely resulting in premature truncation of the functional protein (UniProt.org). R131fs has not been characterized however, due to the effects of other truncation mutations downstream of R131 (PMID: 31636395, PMID: 31757951), is predicted to lead to a loss of Palb2 protein function.
S172fs frameshift loss of function 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).
Y1108fs frameshift loss of function - predicted 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.