Gene: BRCA2 ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28897743
rs28897743
BRCA2
5 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 13 2002 2019
dbSNP: rs397507954
rs397507954
BRCA2
3 0.925 0.200 13 32363225 missense variant A/G snv 4.0E-06 0.700 1.000 13 2008 2019
dbSNP: rs81002823
rs81002823
BRCA2
3 0.925 0.200 13 32354859 splice acceptor variant A/G;T snv 0.700 1.000 10 2009 2019
dbSNP: rs80358650
rs80358650
BRCA2
3 0.925 0.200 13 32316463 start lost G/A;T snv 0.700 1.000 7 2008 2019
dbSNP: rs28897759
rs28897759
BRCA2
4 0.851 0.200 13 32394803 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 6 2010 2019
dbSNP: rs81002858
rs81002858
BRCA2
3 0.925 0.200 13 32326497 splice acceptor variant A/C;G snv 0.700 1.000 6 2003 2019
dbSNP: rs81002899
rs81002899
BRCA2
5 0.851 0.280 13 32326615 splice donor variant T/A;C;G snv 0.700 1.000 6 2000 2019
dbSNP: rs81002836
rs81002836
BRCA2
5 0.851 0.200 13 32362521 splice acceptor variant A/G;T snv 0.700 1.000 5 2011 2019
dbSNP: rs81002874
rs81002874
BRCA2
3 0.925 0.200 13 32363178 splice acceptor variant G/A;C;T snv 4.0E-06 0.700 1.000 5 2003 2019
dbSNP: rs397507404
rs397507404
BRCA2
10 0.763 0.320 13 32370955 splice acceptor variant G/A;T snv 0.700 1.000 4 2002 2019
dbSNP: rs81002796
rs81002796
BRCA2
4 0.925 0.200 13 32316528 splice donor variant G/A;C;T snv 0.700 1.000 4 2006 2019
dbSNP: rs81002797
rs81002797
BRCA2
3 0.925 0.200 13 32326151 splice donor variant G/A;T snv 0.700 1.000 2 2013 2019
dbSNP: rs276174916
rs276174916
BRCA2
3 0.925 0.200 13 32379749 splice acceptor variant GTT/AA delins 0.700 1.000 1 2019 2019
dbSNP: rs397507842
rs397507842
BRCA2
3 0.925 0.200 13 32329441 splice acceptor variant A/C;G snv 4.1E-06 0.700 1.000 1 2019 2019
dbSNP: rs397507997
rs397507997
BRCA2
2 1.000 13 32371101 splice donor variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs786204280
rs786204280
BRCA2
2 1.000 13 32354860 splice acceptor variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs80359026
rs80359026
BRCA2
2 1.000 13 32362692 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs81002820
rs81002820
BRCA2
3 0.925 0.200 13 32329442 splice acceptor variant G/A;C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs81002843
rs81002843
BRCA2
2 0.925 0.200 13 32356611 splice donor variant T/G snv 0.700 1.000 1 2019 2019
dbSNP: rs81002862
rs81002862
BRCA2
3 0.925 0.200 13 32380005 splice acceptor variant A/C;G;T snv 3.2E-05 0.700 1.000 1 2019 2019
dbSNP: rs81002863
rs81002863
BRCA2
3 0.925 0.200 13 32346825 splice acceptor variant A/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs81002873
rs81002873
BRCA2
2 1.000 13 32362694 splice donor variant G/A snv 0.700 1.000 1 2019 2019
dbSNP: rs81002886
rs81002886
BRCA2
1 1.000 13 32376668 splice acceptor variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs886040940
rs886040940
BRCA2
2 1.000 13 32357740 splice acceptor variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs886040945
rs886040945
BRCA2
2 1.000 13 32376643 splice acceptor variant TTAATAATCCTTTTGTTTTCTTAGAA/- delins 0.700 1.000 1 2019 2019