ClinVar Miner

List of variants reported as likely pathogenic for breast-ovarian cancer, familial, susceptibility to, 1 by Clinical Cancer Genomics Laboratory, City of Hope Comprehensive Cancer Center

Included ClinVar conditions (8):

Breast-ovarian cancer, familial, susceptibility to, 1
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; Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1; Nijmegen breakage syndrome-like disorder
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, 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
Lynch syndrome 1; Breast-ovarian cancer, familial, susceptibility to, 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NG_005905.2:g.(111529_113027)_(147057_150288)del
NG_005905.2:g.(141497_143462)_(154111_154610)dup
NG_005905.2:g.(92714_93868)_(173690_?)del
NM_007294.4(BRCA1):c.3359_3360insG (p.Val1120_Asn1121insTer)	rs2154323689
NM_007294.4(BRCA1):c.4645_4646dup (p.Thr1550fs)	rs2153992821
NM_007294.4(BRCA1):c.4821del (p.Ala1608fs)	rs2153836342
NM_007294.4(BRCA1):c.5306dup (p.Tyr1769Ter)	rs2153070428

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