ClinVar Miner

List of variants in gene BRCA2 reported as likely pathogenic by Ambry Genetics

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 168
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.8188G>C (p.Ala2730Pro) rs80359066 0.00003
NM_000059.4(BRCA2):c.6859A>T (p.Arg2287Ter) rs876661261 0.00001
NM_000059.4(BRCA2):c.7961T>C (p.Leu2654Pro) rs80359023 0.00001
NM_000059.4(BRCA2):c.7970A>C (p.Lys2657Thr) rs1555286874 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000059.4(BRCA2):c.9648+1G>C rs730881573 0.00001
NM_000059.3:c.2829_2830insALU
NM_000059.3:c.3390_3391insALU
NM_000059.3:c.3834_3835insALU
NM_000059.3:c.4993_4994insALU
NM_000059.3:c.5990_5991insL1
NM_000059.3:c.7649_7650insALU
NM_000059.3:c.8814_8815insALU
NM_000059.3:c.8933_8934insALU
NM_000059.3:c.9327_9328insALU
NM_000059.3:c.9451_9452insALU
NM_000059.4(BRCA2):c.-39-1_-39del rs758732038
NM_000059.4(BRCA2):c.-39-2A>G rs1555280053
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.1909+2T>A rs876658577
NM_000059.4(BRCA2):c.1910-1_1914del rs1593895760
NM_000059.4(BRCA2):c.316+1G>T rs397507303
NM_000059.4(BRCA2):c.316+1del
NM_000059.4(BRCA2):c.426-2A>G rs398122779
NM_000059.4(BRCA2):c.475+2T>C rs1555280966
NM_000059.4(BRCA2):c.475+4del rs276174848
NM_000059.4(BRCA2):c.476-1G>A rs397507340
NM_000059.4(BRCA2):c.516+1G>T rs397507762
NM_000059.4(BRCA2):c.516+4A>G rs2137450725
NM_000059.4(BRCA2):c.516G>A (p.Lys172=) rs80359790
NM_000059.4(BRCA2):c.516G>T (p.Lys172Asn) rs80359790
NM_000059.4(BRCA2):c.517-1G>C
NM_000059.4(BRCA2):c.517-2A>G rs81002858
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.4(BRCA2):c.517G>T (p.Gly173Cys) rs397507768
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly) rs397507359
NM_000059.4(BRCA2):c.631+1G>C rs81002897
NM_000059.4(BRCA2):c.631+3A>G rs397507840
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu) rs80358871
NM_000059.4(BRCA2):c.632-1G>A rs81002820
NM_000059.4(BRCA2):c.67+2T>G rs81002885
NM_000059.4(BRCA2):c.67+3A>C
NM_000059.4(BRCA2):c.67+3A>G rs1593880835
NM_000059.4(BRCA2):c.681+2dup rs587781486
NM_000059.4(BRCA2):c.681+4A>G rs397507884
NM_000059.4(BRCA2):c.682-1G>C rs81002831
NM_000059.4(BRCA2):c.682-3C>G
NM_000059.4(BRCA2):c.6841+2T>G rs1593909960
NM_000059.4(BRCA2):c.6938-1G>A rs886040936
NM_000059.4(BRCA2):c.6938-2A>G rs81002863
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.7008-1G>A rs786204280
NM_000059.4(BRCA2):c.7435+2T>C rs1434072252
NM_000059.4(BRCA2):c.7436-1G>A
NM_000059.4(BRCA2):c.7436-2_7437del rs876659229
NM_000059.4(BRCA2):c.7510_7617+184del
NM_000059.4(BRCA2):c.7618-10T>G rs864622573
NM_000059.4(BRCA2):c.7618-187G>T
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys) rs587782715
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg) rs398122591
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.7795G>A (p.Glu2599Lys) rs41293509
NM_000059.4(BRCA2):c.7796A>G (p.Glu2599Gly) rs780715340
NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys) rs786202344
NM_000059.4(BRCA2):c.7804_7805+9del
NM_000059.4(BRCA2):c.7806-1G>C rs81002860
NM_000059.4(BRCA2):c.7806-2A>C rs81002836
NM_000059.4(BRCA2):c.7819A>C (p.Thr2607Pro) rs80359008
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp) rs80359009
NM_000059.4(BRCA2):c.7826G>T (p.Gly2609Val) rs80359009
NM_000059.4(BRCA2):c.7855T>C (p.Trp2619Arg) rs1593923998
NM_000059.4(BRCA2):c.7867C>T (p.His2623Tyr) rs1566244783
NM_000059.4(BRCA2):c.7874G>T (p.Arg2625Ile) rs864622552
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7880T>A (p.Ile2627Asn) rs876658736
NM_000059.4(BRCA2):c.793+1G>C rs81002846
NM_000059.4(BRCA2):c.793+1G>T rs81002846
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.4(BRCA2):c.7967T>A (p.Leu2656Gln) rs886037817
NM_000059.4(BRCA2):c.7976+5G>T rs786201180
NM_000059.4(BRCA2):c.7977-1G>A rs81002874
NM_000059.4(BRCA2):c.7977-1G>T rs81002874
NM_000059.4(BRCA2):c.7977-4_7977-3del rs876659992
NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp) rs80359029
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8059G>T (p.Val2687Phe) rs80359044
NM_000059.4(BRCA2):c.8059_8064del (p.Val2687_Leu2688del) rs1593924996
NM_000059.4(BRCA2):c.8162T>A (p.Leu2721His) rs80359061
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile) rs80359062
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn) rs41293511
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu) rs1060502432
NM_000059.4(BRCA2):c.8171G>T (p.Gly2724Val) rs80359063
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser) rs56371528
NM_000059.4(BRCA2):c.8243G>T (p.Gly2748Val) rs80359071
NM_000059.4(BRCA2):c.8252T>G (p.Ile2751Ser) rs1555287065
NM_000059.4(BRCA2):c.8331+1G>A rs81002837
NM_000059.4(BRCA2):c.8331+1G>T rs81002837
NM_000059.4(BRCA2):c.8331+2T>C rs398122602
NM_000059.4(BRCA2):c.8331+2T>G rs398122602
NM_000059.4(BRCA2):c.8332-1G>C rs397507979
NM_000059.4(BRCA2):c.8332-2A>G rs587782774
NM_000059.4(BRCA2):c.8332-3384A>T
NM_000059.4(BRCA2):c.8332-3C>G rs587782093
NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile) rs1434821822
NM_000059.4(BRCA2):c.8351G>T (p.Arg2784Leu) rs80359076
NM_000059.4(BRCA2):c.8362T>C (p.Trp2788Arg) rs80359079
NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser) rs80359080
NM_000059.4(BRCA2):c.8375T>C (p.Leu2792Pro) rs28897751
NM_000059.4(BRCA2):c.8375T>G (p.Leu2792Arg) rs28897751
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.4(BRCA2):c.8384_8395del (p.Phe2795_Arg2799delinsTer) rs587781689
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8486_8487+7delinsCCTATG
NM_000059.4(BRCA2):c.8488-1G>T rs397507404
NM_000059.4(BRCA2):c.8488-1_8496delinsCT rs1555287731
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys) rs398122710
NM_000059.4(BRCA2):c.8633-1G>A rs398122711
NM_000059.4(BRCA2):c.8633-24_8634del rs886040945
NM_000059.4(BRCA2):c.8633-27_8633-9del
NM_000059.4(BRCA2):c.8633-2A>G rs81002886
NM_000059.4(BRCA2):c.8633-33_8726delinsCAGACCCAGCTT
NM_000059.4(BRCA2):c.8754+1G>T rs397508006
NM_000059.4(BRCA2):c.8754+1del rs1593935041
NM_000059.4(BRCA2):c.8754+3G>C rs397508007
NM_000059.4(BRCA2):c.8754+4A>T rs81002893
NM_000059.4(BRCA2):c.8754+5G>A rs81002813
NM_000059.4(BRCA2):c.8754+5G>C rs81002813
NM_000059.4(BRCA2):c.8755-1G>C rs81002812
NM_000059.4(BRCA2):c.8755-2A>G rs1566252482
NM_000059.4(BRCA2):c.8755-3_8755-2delinsGG
NM_000059.4(BRCA2):c.8755-6_8755-2del
NM_000059.4(BRCA2):c.8755-9T>A rs397507413
NM_000059.4(BRCA2):c.8953+1G>A rs81002882
NM_000059.4(BRCA2):c.8953+1del rs730881617
NM_000059.4(BRCA2):c.8954-2_8959del rs1566252995
NM_000059.4(BRCA2):c.8954-3C>G rs81002844
NM_000059.4(BRCA2):c.8954-5A>G rs886040949
NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del) rs80359736
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9005A>G (p.Glu3002Gly) rs1555288459
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp) rs397507416
NM_000059.4(BRCA2):c.9052A>G (p.Ser3018Gly) rs431825373
NM_000059.4(BRCA2):c.9116_9117+4del
NM_000059.4(BRCA2):c.9117+1del rs869320801
NM_000059.4(BRCA2):c.9117+3A>G rs1555288517
NM_000059.4(BRCA2):c.9118-2A>T rs81002862
NM_000059.4(BRCA2):c.9155G>T (p.Arg3052Leu) rs80359171
NM_000059.4(BRCA2):c.9217G>T (p.Asp3073Tyr) rs876658262
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.4(BRCA2):c.9254_9256+11del rs1555288584
NM_000059.4(BRCA2):c.9256+1G>C rs81002883
NM_000059.4(BRCA2):c.9256+2T>A
NM_000059.4(BRCA2):c.9257-1G>A rs81002889
NM_000059.4(BRCA2):c.9257-1G>T
NM_000059.4(BRCA2):c.9257-2A>G rs886040954
NM_000059.4(BRCA2):c.9364G>C (p.Ala3122Pro) rs587782313
NM_000059.4(BRCA2):c.9373C>T (p.Leu3125Phe) rs1555289566
NM_000059.4(BRCA2):c.9501+1G>A rs397508058
NM_000059.4(BRCA2):c.9501+1G>T rs397508058
NM_000059.4(BRCA2):c.9502-1G>A
NM_000059.4(BRCA2):c.9502-2A>C rs81002868
NM_000059.4(BRCA2):c.9502-8_9502-3delinsAA
NM_000059.4(BRCA2):c.9502-8_9504dup
NM_000059.4(BRCA2):c.9649-12T>G
NM_000059.4(BRCA2):c.9649-1G>C rs1555289898
NM_000059.4(BRCA2):c.9895C>T (p.Gln3299Ter) rs1555289997

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