ClinVar Miner

List of variants in gene CHEK2 reported as pathogenic for prostate disorder

Included ClinVar conditions (29):

Androgen resistance syndrome; Kennedy disease; Partial androgen insensitivity syndrome; Hypospadias 1, X-linked; Malignant tumor of prostate
Endometrial carcinoma; Macrocephaly-autism syndrome; Familial meningioma; Squamous cell carcinoma of the head and neck; Bannayan-Riley-Ruvalcaba syndrome; Malignant tumor of prostate; Thyroid cancer, nonmedullary, 2; VACTERL with hydrocephalus; Glioma susceptibility 2; Cowden syndrome 1; Melanoma, cutaneous malignant, susceptibility to, 1
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian neoplasm; Malignant tumor of prostate
Familial cancer of breast; Blepharocheilodontic syndrome 1; Hereditary diffuse gastric adenocarcinoma; Malignant tumor of prostate
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Malignant tumor of prostate
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; Malignant tumor of prostate
Familial cancer of breast; Li-Fraumeni syndrome 2; Bone osteosarcoma; Malignant tumor of prostate
Familial cancer of breast; Li-Fraumeni syndrome 2; Bone osteosarcoma; Malignant tumor of prostate; Colorectal cancer
Familial cancer of breast; Lung carcinoma; Malignant tumor of prostate; Carcinoma of colon
Familial cancer of breast; Malignant tumor of prostate; Colorectal cancer
Familial prostate cancer
Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; Glioma susceptibility 2; Cowden syndrome 1
Macrocephaly-autism syndrome; Familial meningioma; Malignant tumor of prostate; VACTERL with hydrocephalus; Glioma susceptibility 2; PTEN hamartoma tumor syndrome; Cowden syndrome 1
Malignant tumor of prostate
Malignant tumor of prostate; Metastatic Prostate Small Cell Carcinoma
Malignant tumor of prostate; Prostate neoplasm
Prostate adenocarcinoma
Prostate cancer, hereditary, 1
Prostate cancer, hereditary, 12
Prostate cancer, hereditary, 13
Prostate cancer, hereditary, 2
Prostate cancer, hereditary, 2, susceptibility to
Prostate cancer, hereditary, 2; Combined oxidative phosphorylation defect type 17
Prostate cancer, hereditary, 9
Prostate cancer/brain cancer susceptibility
Prostate neoplasm

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	rs17879961	0.00434
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	rs555607708	0.00181
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	rs137853011	0.00026
NM_007194.4(CHEK2):c.444+1G>A	rs121908698	0.00009
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)	rs137853009	0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)	rs121908701	0.00006
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)	rs587781269	0.00003
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser)	rs200928781	0.00002
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter)	rs756250205	0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)	rs730881701	0.00001
NM_007194.4(CHEK2):c.592+3A>T	rs587782849	0.00001
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)	rs587780174
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)	rs587781705
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)	rs200917541
NM_007194.4(CHEK2):c.444+2T>C	rs560596101
NM_007194.4(CHEK2):c.591del (p.Val198fs)	rs587782245
NM_007194.4(CHEK2):c.593-1G>T	rs786203229
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter)	rs121908702

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