ClinVar Miner

List of variants in gene SPOP reported as likely pathogenic for prostate cancer

Included ClinVar conditions (36):

Androgen resistance syndrome; Kennedy disease; Partial androgen insensitivity syndrome; Hypospadias 1, X-linked; Familial prostate cancer
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; Familial prostate cancer; Ovarian cancer
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; Glioma susceptibility 3; Familial prostate cancer
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; Breast-ovarian cancer, familial, susceptibility to, 2; Malignant tumor of prostate
Familial cancer of breast; Li-Fraumeni syndrome 2; Bone osteosarcoma; Familial prostate cancer
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
Li-Fraumeni syndrome 2; Bone osteosarcoma; Familial prostate cancer
Macrocephaly-autism syndrome; Familial meningioma; Glioma susceptibility 2; Familial prostate cancer; Cowden syndrome 1
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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001007228.2(SPOP):c.259T>A (p.Tyr87Asn)	rs1057519972
NM_001007228.2(SPOP):c.260A>C (p.Tyr87Ser)	rs1057519971
NM_001007228.2(SPOP):c.260A>G (p.Tyr87Cys)	rs1057519971
NM_001007228.2(SPOP):c.304T>G (p.Phe102Val)	rs1057519964
NM_001007228.2(SPOP):c.305T>G (p.Phe102Cys)	rs193920894
NM_001007228.2(SPOP):c.306C>G (p.Phe102Leu)	rs1057519965
NM_001007228.2(SPOP):c.391T>A (p.Trp131Arg)	rs1057519968
NM_001007228.2(SPOP):c.391T>G (p.Trp131Gly)	rs1057519968
NM_001007228.2(SPOP):c.392G>C (p.Trp131Ser)	rs1057519969
NM_001007228.2(SPOP):c.393G>T (p.Trp131Cys)	rs1057519970
NM_001007228.2(SPOP):c.397T>A (p.Phe133Ile)	rs1057519966
NM_001007228.2(SPOP):c.397T>G (p.Phe133Val)	rs1057519966
NM_001007228.2(SPOP):c.398T>C (p.Phe133Ser)	rs1057519967
NM_001007228.2(SPOP):c.398T>G (p.Phe133Cys)	rs1057519967
NM_001007228.2(SPOP):c.399C>G (p.Phe133Leu)	rs193921065

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