ClinVar Miner

List of variants in gene PIK3CA studied for exocrine pancreatic carcinoma

Included ClinVar conditions (34):

Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Familial pancreatic carcinoma; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5
Breast-ovarian cancer, familial, susceptibility to, 1; Carcinoma of pancreas; Hereditary breast ovarian cancer syndrome; Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S
Carcinoma of pancreas
Carcinoma of pancreas; Peutz-Jeghers syndrome; Malignant tumor of testis
Carcinoma of pancreas; Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Germ cell tumor of testis
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Melanoma, cutaneous malignant, susceptibility to, 1
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Malignant tumor of prostate; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Tracheoesophageal fistula
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Familial prostate cancer
Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3
Familial cancer of breast; Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Tracheoesophageal fistula
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma; Lung carcinoma; Noonan syndrome 3; Linear nevus sebaceous syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Familial pancreatic carcinoma; Gastric cancer; Lung cancer
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer
Familial cancer of breast; Pancreatic cancer, susceptibility to, 3
Familial pancreatic carcinoma
Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5
Fanconi anemia complementation group N; Pancreatic cancer, susceptibility to, 3; Malignant tumor of breast
Myhre syndrome; Generalized juvenile polyposis/juvenile polyposis coli; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas
Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Carcinoma of pancreas; Juvenile polyposis syndrome
Myhre syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Familial pancreatic carcinoma; Juvenile polyposis syndrome
Pancreatic adenocarcinoma
Pancreatic cancer, susceptibility to, 1
Pancreatic cancer, susceptibility to, 2
Pancreatic cancer, susceptibility to, 3
Pancreatic cancer, susceptibility to, 3; Breast cancer, susceptibility to
Pancreatic cancer, susceptibility to, 3; Breast-ovarian cancer, familial, susceptibility to, 5
Pancreatic cancer, susceptibility to, 4
Peutz-Jeghers syndrome; Melanoma, cutaneous malignant, susceptibility to, 1; Familial pancreatic carcinoma; Germ cell tumor of testis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	rs104886003
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)	rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)	rs121913274
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)	rs121913274
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)	rs121913275
NM_006218.4(PIK3CA):c.3127A>G (p.Met1043Val)	rs1057519936
NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu)	rs1057519936
NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr)	rs1057519937
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)	rs121913283
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	rs121913279
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln)	rs1057519932
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)	rs587777790

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