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: rs28897756
rs28897756
BRCA2
0.752 0.440 13 32379913 splice region variant G/A;C;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 41 1997 2017
dbSNP: rs80359013
rs80359013
BRCA2
0.882 0.280 13 32362595 stop gained G/A;C snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 31 2002 2018
dbSNP: rs28897743
rs28897743
BRCA2
0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 27 1997 2017
dbSNP: rs28897759
rs28897759
BRCA2
0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 27 2000 2016
dbSNP: rs28897743
rs28897743
BRCA2
0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 26 1997 2018
dbSNP: rs80359013
rs80359013
BRCA2
0.882 0.280 13 32362595 stop gained G/A;C snv 8.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 23 2002 2019
dbSNP: rs80359306
rs80359306
BRCA2
0.827 0.280 13 32333284 frameshift variant A/-;AA delins
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 23 1997 2014
dbSNP: rs28897759
rs28897759
BRCA2
0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 22 2000 2017
dbSNP: rs80359306
rs80359306
BRCA2
0.827 0.280 13 32333284 frameshift variant A/-;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 21 1996 2017
dbSNP: rs81002874
rs81002874
BRCA2
0.925 0.200 13 32363178 splice acceptor variant G/A;C;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 20 2002 2017
dbSNP: rs80359031
rs80359031
BRCA2
0.763 0.320 13 32363190 missense variant A/T snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 19 2000 2017
dbSNP: rs80359198
rs80359198
BRCA2
0.882 0.200 13 32394717 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 7.6E-05
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 19 1996 2018
dbSNP: rs80359035
rs80359035
BRCA2
0.882 0.200 13 32363211 stop gained C/A;G;T snv
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		0.700 1.000 18 2004 2017
dbSNP: rs397507419
rs397507419
BRCA2
0.807 0.200 13 32379886 frameshift variant AAAA/-;AAA;AAAAA delins 4.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 17 1997 2015
dbSNP: rs41293513
rs41293513
BRCA2
0.882 0.200 13 32363370 missense variant A/C;G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 17 2004 2018
dbSNP: rs80358721
rs80358721
BRCA2
0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 17 2007 2018
dbSNP: rs80359071
rs80359071
BRCA2
0.882 0.200 13 32363445 missense variant G/A snv 8.0E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 17 2004 2016
dbSNP: rs81002836
rs81002836
BRCA2
0.851 0.200 13 32362521 splice acceptor variant A/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 17 1999 2016
dbSNP: rs80359152
rs80359152
BRCA2
0.851 0.200 13 32379800 missense variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 16 2006 2018
dbSNP: rs80359460
rs80359460
BRCA2
0.925 0.200 13 32338982 frameshift variant A/-;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 16 1999 2016
dbSNP: rs81002899
rs81002899
BRCA2
0.851 0.280 13 32326615 splice donor variant T/A;C;G snv
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 16 2000 2016
dbSNP: rs397507419
rs397507419
BRCA2
0.807 0.200 13 32379886 frameshift variant AAAA/-;AAA;AAAAA delins 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 15 1997 2017
dbSNP: rs80358721
rs80358721
BRCA2
0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.700 1.000 15 2007 2016
dbSNP: rs80358814
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 15 1996 2016
dbSNP: rs80359003
rs80359003
BRCA2
0.925 0.200 13 32357881 stop gained G/A snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 15 2003 2017