ClinVar Miner

List of variants in gene CDKN2A reported as likely pathogenic 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg)	rs587778189
NM_000077.5(CDKN2A):c.150G>T (p.Gln50His)	rs1057519882
NM_000077.5(CDKN2A):c.151-2A>G	rs1554654224
NM_000077.5(CDKN2A):c.239G>A (p.Arg80Gln)	rs1057519883
NM_000077.5(CDKN2A):c.247C>G (p.His83Asp)	rs121913385
NM_000077.5(CDKN2A):c.247C>T (p.His83Tyr)	rs121913385
NM_000077.5(CDKN2A):c.248A>G (p.His83Arg)	rs1057519881
NM_000077.5(CDKN2A):c.249C>G (p.His83Gln)	rs34968276

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.