Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80357575
rs80357575
BRCA1
0.925 0.200 17 43092202 frameshift variant TTTTT/-;T;TT;TTTT;TTTTTT;TTTTTTT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1996 2017
dbSNP: rs80357575
rs80357575
BRCA1
0.925 0.200 17 43092202 frameshift variant TTTTT/-;T;TT;TTTT;TTTTTT;TTTTTTT delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 2 1996 2006
dbSNP: rs80357575
rs80357575
BRCA1
0.925 0.200 17 43092202 frameshift variant TTTTT/-;T;TT;TTTT;TTTTTT;TTTTTTT delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 0
dbSNP: rs80359872
rs80359872
BRCA1
0.925 0.200 17 43094516 frameshift variant TTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTT/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs80359872
rs80359872
BRCA1
0.925 0.200 17 43094516 frameshift variant TTTTCTGTGCTGGGAGTCCGCCTATCATTACATGTTTCCTTACTTCCAGCCCATCTGTTATGTT/- delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 0
dbSNP: rs1555579598
rs1555579598
BRCA1
1.000 17 43067608 splice acceptor variant TTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCATCTG/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs80357770
rs80357770
BRCA1
0.925 0.200 17 43094141 frameshift variant TTTT/CTTTC;NNNNN;TTT;TTTTT delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 3 2002 2011
dbSNP: rs80357770
rs80357770
BRCA1
0.925 0.200 17 43094141 frameshift variant TTTT/CTTTC;NNNNN;TTT;TTTTT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2002 2002
dbSNP: rs80357770
rs80357770
BRCA1
0.925 0.200 17 43094141 frameshift variant TTTT/CTTTC;NNNNN;TTT;TTTTT delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs397508911
rs397508911
BRCA1
1.000 17 43093708 frameshift variant TTTT/-;TTT delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs80357522
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 29 1995 2015
dbSNP: rs80357522
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 23 1995 2017
dbSNP: rs80357522
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 1.000 2 1995 2013
dbSNP: rs80357522
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 1.000 1 2004 2004
dbSNP: rs80357522
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma 		0.700 1.000 1 2004 2004
dbSNP: rs80357522
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs80357522
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 0
dbSNP: rs80357522
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		0.700 0
dbSNP: rs80357522
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.700 0
dbSNP: rs80357522
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.700 0
dbSNP: rs886039978
rs886039978
BRCA1
1.000 17 43106457 splice donor variant TTTGGTTATATCATTCTTACAT/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs397507182
rs397507182
BRCA1
1.000 17 43094312 frameshift variant TTTGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA/- delins
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs1567795017
rs1567795017
BRCA1
1.000 0.200 17 43092937 frameshift variant TTTGAA/AAAAGAAT delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 0
dbSNP: rs397509248
rs397509248
BRCA1
1.000 17 43057053 frameshift variant TTTCTGT/- del
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs80357609
rs80357609
BRCA1
0.851 0.200 17 43091827 frameshift variant TTTAC/- delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 20 1995 2016