NC_000016.10:g.(?_23603162)_(23603669_?)delPathogenic
PALB2-related cancer predisposition
β
β
β
β2025
NM_024675.4(PALB2):c.532del (p.Glu178fs)Pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome|PALB2-related cancer predisposition
β
β
β
β2023β Residue 178
NM_024675.4(PALB2):c.2787_2788dup (p.Asn930fs)Pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome|PALB2-related cancer predisposition
β
β
β
β2023β Residue 930
NM_024675.4(PALB2):c.839del (p.Asn280fs)Pathogenic
Familial cancer of breast|not provided|Hereditary cancer-predisposing syndrome|PALB2-related disorder|PALB2-related cancer predisposition
β
β
β
β2023β Residue 280
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast|not specified|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 5|not provided|PALB2-related cancer predisposition
β
β
β
β2023β Residue 1117
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter)Likely pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome|PALB2-related cancer predisposition|Breast-ovarian cancer, familial, susceptibility to, 5
β
β
β
β2023β Residue 692
NM_024675.4(PALB2):c.682C>T (p.Gln228Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 5|PALB2-related cancer predisposition
β
β
β
β2023β Residue 228
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter)Pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided|PALB2-related cancer predisposition|Breast-ovarian cancer, familial, susceptibility to, 5
β
β
β
β2023β Residue 3
NM_024675.4(PALB2):c.514_517del (p.Ser172fs)Pathogenic
Familial cancer of breast|Malignant tumor of breast|Hereditary cancer-predisposing syndrome|PALB2-related cancer predisposition
β
β
β
β2023β Residue 172
NM_024675.4(PALB2):c.108+1_108+2insCLikely pathogenic
Hereditary cancer-predisposing syndrome|PALB2-related cancer predisposition
β
β
β
β2023
NM_024675.4(PALB2):c.2559C>T (p.Gly853=)Likely pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast;Hereditary cancer-predisposing syndrome|PALB2-related cancer predisposition
β
β
β
β2023β Residue 853
NM_024675.4(PALB2):c.2524_2535delinsTCAGA (p.Ala842fs)Pathogenic
Hereditary cancer-predisposing syndrome|PALB2-related cancer predisposition
β
β
β
β2023β Residue 842
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)Likely pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided|Hereditary breast ovarian cancer syndrome|Malignant tumor of breast|Breast and/or ovarian cancer|Breast-ovarian cancer, familial, susceptibility to, 5|PALB2-related cancer predisposition
β
β
β
β2023β Residue 1121
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided|Hereditary breast ovarian cancer syndrome|Familial cancer of breast;Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N|Breast-ovarian cancer, familial, susceptibility to, 1|Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N;Breast-ovarian cancer, familial, susceptibility to, 5|PALB2-related disorder|PALB2-related cancer predisposition|Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N;Hereditary cancer-predisposing syndrome;Breast-ovarian cancer, familial, susceptibility to, 5
β
β
β
β2023β Residue 1183
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)Pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided|Hereditary breast ovarian cancer syndrome|Familial cancer of breast;Hereditary cancer-predisposing syndrome|Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N;Malignant tumor of breast|Breast-ovarian cancer, familial, susceptibility to, 5|PALB2-related disorder|Breast and/or ovarian cancer|NICE approved PARP inhibitor treatment|Inherited breast cancer and ovarian cancer|Inherited ovarian cancer (without breast cancer)|PALB2-related cancer predisposition|Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N;Breast-ovarian cancer, familial, susceptibility to, 5|Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N;Hereditary cancer-predisposing syndrome;Breast-ovarian cancer, familial, susceptibility to, 5|Gastric cancer
β
β
β
β2023β Residue 1038
NM_024675.4(PALB2):c.3350+4A>GLikely pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided|Breast-ovarian cancer, familial, susceptibility to, 5|PALB2-related disorder|PALB2-related cancer predisposition|Malignant tumor of breast
β
β
β
β2023
NM_024675.4(PALB2):c.1592del (p.Leu531fs)Pathogenic
Familial cancer of breast|Hereditary cancer-predisposing syndrome|not provided|Hereditary breast ovarian cancer syndrome|Breast-ovarian cancer, familial, susceptibility to, 5|Familial pancreatic carcinoma|PALB2-related cancer predisposition
β
β
β
β2022β Residue 531
NM_024675.4(PALB2):c.1547_1548del (p.Arg516fs)Pathogenic
Familial cancer of breast|not provided|Hereditary cancer-predisposing syndrome
β
β
ββ2026β Residue 516
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs)Pathogenic
Hereditary cancer-predisposing syndrome|Familial cancer of breast|not provided|not specified|Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N;Familial cancer of breast|Breast-ovarian cancer, familial, susceptibility to, 5
β
β
ββ2026β Residue 380
NM_024675.4(PALB2):c.1675_1676delinsTGPathogenic
Hereditary cancer-predisposing syndrome|not provided|Familial cancer of breast|Precursor B-cell acute lymphoblastic leukemia|Malignant tumor of breast|Familial cancer of breast;Pancreatic cancer, susceptibility to, 3;Fanconi anemia complementation group N|PALB2-related disorder
β
β
ββ2026