ClinVar Miner

List of variants in gene BRCA2 reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 112
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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.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro) rs80359045 0.00001
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NC_000013.10:g.(?_32893194)_(32903649_?)dup
NC_000013.10:g.(?_32908767)_(32914690_?)del
NC_000013.10:g.(?_32918675)_(32921053_?)dup
NC_000013.10:g.(?_32928978)_(32945257_?)dup
NC_000013.10:g.(?_32928978)_(32954302_?)dup
NC_000013.10:g.(?_32928992)_(32954288_?)dup
NC_000013.10:g.(?_32930545)_(32944714_?)dup
NC_000013.10:g.(?_32930559)_(32937676_?)dup
NC_000013.10:g.(?_32936534)_(32936850_?)del
NC_000013.10:g.(?_32936534)_(32945257_?)dup
NC_000013.10:g.(?_32944519)_(32944714_?)del
NC_000013.10:g.(?_32944519)_(32945257_?)dup
NC_000013.10:g.(?_32944533)_(32945243_?)dup
NC_000013.10:g.(?_32945087)_(32945243_?)dup
NC_000013.11:g.(?_32354841)_(32357949_?)del
NC_000013.11:g.(?_32354855)_(32357935_?)del
NC_000013.11:g.(?_32356408)_(32357949_?)dup
NC_000013.11:g.(?_32370936)_(32371120_?)dup
NM_000059.4(BRCA2):c.-39-1G>C rs1060499566
NM_000059.4(BRCA2):c.-39-1_-39del rs758732038
NM_000059.4(BRCA2):c.-39-2A>G rs1555280053
NM_000059.4(BRCA2):c.425+1G>A rs587782590
NM_000059.4(BRCA2):c.425+2T>C rs876661045
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.4(BRCA2):c.426-1G>A rs1060502485
NM_000059.4(BRCA2):c.475+3A>G rs81002795
NM_000059.4(BRCA2):c.475G>A (p.Val159Met) rs80358702
NM_000059.4(BRCA2):c.476-4_476-1delinsT rs587782880
NM_000059.4(BRCA2):c.517-29_519del rs2137451744
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.4(BRCA2):c.518_631+462del rs2072348853
NM_000059.4(BRCA2):c.518_631+462delinsAAAGAAATTTTATTTCTTT
NM_000059.4(BRCA2):c.631+3A>G rs397507840
NM_000059.4(BRCA2):c.631+4A>G rs397507841
NM_000059.4(BRCA2):c.67+2del rs863224439
NM_000059.4(BRCA2):c.681+1del
NM_000059.4(BRCA2):c.681+4A>G rs397507884
NM_000059.4(BRCA2):c.6841+1G>A rs773863936
NM_000059.4(BRCA2):c.6841+1del rs397507887
NM_000059.4(BRCA2):c.6841+2T>G rs1593909960
NM_000059.4(BRCA2):c.6938-5_6956del
NM_000059.4(BRCA2):c.7007G>T (p.Arg2336Leu) rs28897743
NM_000059.4(BRCA2):c.7435+2T>A rs1434072252
NM_000059.4(BRCA2):c.7436-2_7437del rs876659229
NM_000059.4(BRCA2):c.7618-10T>G rs864622573
NM_000059.4(BRCA2):c.7618-516_7653del
NM_000059.4(BRCA2):c.7802A>G (p.Tyr2601Cys) rs786202344
NM_000059.4(BRCA2):c.7805+2_7805+3del rs2072712311
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp) rs80359009
NM_000059.4(BRCA2):c.7867C>T (p.His2623Tyr) rs1566244783
NM_000059.4(BRCA2):c.7868A>C (p.His2623Pro)
NM_000059.4(BRCA2):c.7868A>T (p.His2623Leu) rs80359012
NM_000059.4(BRCA2):c.7876T>A (p.Trp2626Arg) rs1060502459
NM_000059.4(BRCA2):c.7876T>C (p.Trp2626Arg) rs1060502459
NM_000059.4(BRCA2):c.7880T>A (p.Ile2627Asn) rs876658736
NM_000059.4(BRCA2):c.794-2A>G rs1566222053
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro) rs80359021
NM_000059.4(BRCA2):c.7955T>G (p.Val2652Gly) rs1555286868
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.7971_7976+4del
NM_000059.4(BRCA2):c.7976+5G>A rs786201180
NM_000059.4(BRCA2):c.7977-3_7977-2delinsAG rs1135401921
NM_000059.4(BRCA2):c.7987G>A (p.Glu2663Lys) rs80359030
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro) rs28897746
NM_000059.4(BRCA2):c.8164A>G (p.Thr2722Ala) rs1555287019
NM_000059.4(BRCA2):c.8165C>A (p.Thr2722Lys) rs80359062
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.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu) rs1060502432
NM_000059.4(BRCA2):c.8170G>A (p.Gly2724Arg)
NM_000059.4(BRCA2):c.8171G>T (p.Gly2724Val) rs80359063
NM_000059.4(BRCA2):c.8176T>A (p.Tyr2726Asn) rs2137581441
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.8332-1G>T rs397507979
NM_000059.4(BRCA2):c.8332-2A>C rs587782774
NM_000059.4(BRCA2):c.8332-2A>G rs587782774
NM_000059.4(BRCA2):c.8486A>C (p.Gln2829Pro) rs80359100
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000059.4(BRCA2):c.8754+4A>T rs81002893
NM_000059.4(BRCA2):c.8754+5G>A rs81002813
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=) rs80359803
NM_000059.4(BRCA2):c.8755-2A>C rs1566252482
NM_000059.4(BRCA2):c.8953+1_8953+2insGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCACATGGGGAGGCCGAGGCGGGTGGATCGGGTGGACACGAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGATTCAGG
NM_000059.4(BRCA2):c.8954-1G>A rs1555288435
NM_000059.4(BRCA2):c.8954-2A>C rs1135401928
NM_000059.4(BRCA2):c.8954-2A>G rs1135401928
NM_000059.4(BRCA2):c.8954-2A>T rs1135401928
NM_000059.4(BRCA2):c.8954-3C>G rs81002844
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp) rs397507416
NM_000059.4(BRCA2):c.9057A>G (p.Lys3019=) rs1799956
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro) rs80359161
NM_000059.4(BRCA2):c.9117G>T (p.Pro3039=) rs28897756
NM_000059.4(BRCA2):c.9117_9117+11del rs1593937758
NM_000059.4(BRCA2):c.9155G>T (p.Arg3052Leu) rs80359171
NM_000059.4(BRCA2):c.91T>C (p.Trp31Arg) rs80359182
NM_000059.4(BRCA2):c.9226G>A (p.Gly3076Arg) rs1566253644
NM_000059.4(BRCA2):c.9254_9256+11del rs1555288584
NM_000059.4(BRCA2):c.92G>C (p.Trp31Ser)
NM_000059.4(BRCA2):c.9364G>C (p.Ala3122Pro) rs587782313
NM_000059.4(BRCA2):c.9372C>A (p.Asn3124Lys) rs1420566833
NM_000059.4(BRCA2):c.93G>T (p.Trp31Cys) rs80359214
NM_000059.4(BRCA2):c.9501+1G>A rs397508058
NM_000059.4(BRCA2):c.9501+1G>T rs397508058
NM_000059.4(BRCA2):c.9648+1G>A rs730881573
Single allele

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