ClinVar Miner

List of variants in gene BRCA2 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782 0.00019
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618 0.00019
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712 0.00015
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00010
NM_000059.4(BRCA2):c.7435+23A>G rs761412178 0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912 0.00007
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327 0.00006
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718 0.00006
NM_000059.4(BRCA2):c.5498A>G (p.Asn1833Ser) rs587782601 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg) rs28897720 0.00005
NM_000059.4(BRCA2):c.5503A>G (p.Asn1835Asp) rs80358771 0.00005
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776 0.00005
NM_000059.4(BRCA2):c.5741G>C (p.Ser1914Thr) rs80358801 0.00005
NM_000059.4(BRCA2):c.695A>G (p.Tyr232Cys) rs372188754 0.00005
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052 0.00005
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys) rs375125172 0.00004
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val) rs80358817 0.00004
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly) rs80358896 0.00004
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978 0.00004
NM_000059.4(BRCA2):c.8755-19A>G rs398122713 0.00004
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His) rs80359143 0.00004
NM_000059.4(BRCA2):c.1631C>T (p.Thr544Ile) rs80358448 0.00003
NM_000059.4(BRCA2):c.3575T>G (p.Phe1192Cys) rs80358606 0.00003
NM_000059.4(BRCA2):c.5495C>A (p.Ser1832Tyr) rs138489917 0.00003
NM_000059.4(BRCA2):c.7682A>G (p.Gln2561Arg) rs55647716 0.00003
NM_000059.4(BRCA2):c.9190G>A (p.Asp3064Asn) rs80359177 0.00003
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199 0.00002
NM_000059.4(BRCA2):c.10240A>G (p.Thr3414Ala) rs80358405 0.00002
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463 0.00002
NM_000059.4(BRCA2):c.2389A>G (p.Lys797Glu) rs587782737 0.00002
NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro) rs80358577 0.00002
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala) rs80358742 0.00002
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822 0.00002
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu) rs80359036 0.00002
NM_000059.4(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241 0.00002
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser) rs76635144 0.00002
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly) rs80358389 0.00001
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln) rs371454630 0.00001
NM_000059.4(BRCA2):c.116C>T (p.Ala39Val) rs398122724 0.00001
NM_000059.4(BRCA2):c.1315T>G (p.Phe439Val) rs80358420 0.00001
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys) rs587782535 0.00001
NM_000059.4(BRCA2):c.1888A>G (p.Thr630Ala) rs1335307553 0.00001
NM_000059.4(BRCA2):c.3005A>C (p.Asn1002Thr) rs730881518 0.00001
NM_000059.4(BRCA2):c.3302A>G (p.His1101Arg) rs398122761 0.00001
NM_000059.4(BRCA2):c.3326C>T (p.Ala1109Val) rs41293479 0.00001
NM_000059.4(BRCA2):c.343A>G (p.Lys115Glu) rs56242644 0.00001
NM_000059.4(BRCA2):c.3661T>C (p.Ser1221Pro) rs80358611 0.00001
NM_000059.4(BRCA2):c.4211C>T (p.Ser1404Leu) rs41293489 0.00001
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys) rs80358684 0.00001
NM_000059.4(BRCA2):c.5406A>C (p.Gln1802His) rs139302211 0.00001
NM_000059.4(BRCA2):c.6713A>G (p.Asp2238Gly) rs80358895 0.00001
NM_000059.4(BRCA2):c.6875A>G (p.Glu2292Gly) rs397507378 0.00001
NM_000059.4(BRCA2):c.7001C>T (p.Pro2334Leu) rs748816192 0.00001
NM_000059.4(BRCA2):c.714_716dup (p.Glu238_Ser239insArg) rs80359640 0.00001
NM_000059.4(BRCA2):c.7168A>G (p.Asn2390Asp) rs876660772 0.00001
NM_000059.4(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340 0.00001
NM_000059.4(BRCA2):c.788G>C (p.Ser263Thr) rs1555281480 0.00001
NM_000059.4(BRCA2):c.8356G>A (p.Ala2786Thr) rs80359077 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys) rs373203204 0.00001
NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala) rs151174152 0.00001
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala) rs587782568 0.00001
NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala) rs80359227 0.00001
NM_000059.4(BRCA2):c.10061C>T (p.Ser3354Phe)
NM_000059.4(BRCA2):c.10156_10158del (p.Cys3386del)
NM_000059.4(BRCA2):c.10176del (p.Glu3393fs) rs80359258
NM_000059.4(BRCA2):c.1825C>G (p.Gln609Glu) rs80358472
NM_000059.4(BRCA2):c.1885C>G (p.Leu629Val) rs398122734
NM_000059.4(BRCA2):c.2077T>C (p.Cys693Arg) rs878853558
NM_000059.4(BRCA2):c.2097G>T (p.Gln699His) rs80358486
NM_000059.4(BRCA2):c.2104A>G (p.Ile702Val) rs774968533
NM_000059.4(BRCA2):c.2224C>A (p.Gln742Lys) rs80358494
NM_000059.4(BRCA2):c.227C>T (p.Ser76Leu) rs80358498
NM_000059.4(BRCA2):c.2558A>G (p.Gln853Arg) rs56245590
NM_000059.4(BRCA2):c.2674T>C (p.Phe892Leu) rs1593897508
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.2810A>C (p.Gln937Pro) rs730881516
NM_000059.4(BRCA2):c.3010A>G (p.Ser1004Gly) rs398122759
NM_000059.4(BRCA2):c.3367A>G (p.Ser1123Gly) rs80358581
NM_000059.4(BRCA2):c.3458A>G (p.Lys1153Arg) rs80358594
NM_000059.4(BRCA2):c.3503T>A (p.Met1168Lys) rs80358598
NM_000059.4(BRCA2):c.3556G>A (p.Val1186Ile) rs587782420
NM_000059.4(BRCA2):c.3710C>T (p.Ala1237Val)
NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser) rs398122773
NM_000059.4(BRCA2):c.4037_4043delinsT (p.Thr1346_Cys1348delinsIle) rs276174841
NM_000059.4(BRCA2):c.4054G>T (p.Asp1352Tyr) rs80358655
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.4165T>G (p.Phe1389Val) rs1409088355
NM_000059.4(BRCA2):c.4373A>G (p.His1458Arg) rs587782185
NM_000059.4(BRCA2):c.4513A>G (p.Thr1505Ala) rs80358682
NM_000059.4(BRCA2):c.4856A>G (p.Asn1619Ser) rs80358709
NM_000059.4(BRCA2):c.48_50delinsAAT (p.Thr17Ile)
NM_000059.4(BRCA2):c.50C>T (p.Thr17Ile) rs386833396
NM_000059.4(BRCA2):c.5108A>T (p.Glu1703Val) rs746177907
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr) rs587782007
NM_000059.4(BRCA2):c.5537T>C (p.Ile1846Thr) rs763330257
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile) rs80358777
NM_000059.4(BRCA2):c.6255A>T (p.Leu2085Phe) rs730881579
NM_000059.4(BRCA2):c.6277C>T (p.His2093Tyr) rs1593908107
NM_000059.4(BRCA2):c.6323G>T (p.Arg2108Leu) rs35029074
NM_000059.4(BRCA2):c.6443C>T (p.Ser2148Phe) rs80358880
NM_000059.4(BRCA2):c.6714T>G (p.Asp2238Glu) rs28897742
NM_000059.4(BRCA2):c.6760T>C (p.Phe2254Leu) rs1555284847
NM_000059.4(BRCA2):c.6936T>A (p.Asp2312Glu) rs80358917
NM_000059.4(BRCA2):c.7039C>G (p.Pro2347Ala) rs876660668
NM_000059.4(BRCA2):c.7051G>C (p.Ala2351Pro) rs80358930
NM_000059.4(BRCA2):c.7188G>T (p.Leu2396Phe) rs587780871
NM_000059.4(BRCA2):c.7331A>T (p.Asp2444Val) rs431825352
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser) rs587781485
NM_000059.4(BRCA2):c.7715G>A (p.Ser2572Asn) rs2072709892
NM_000059.4(BRCA2):c.7811T>C (p.Leu2604Pro) rs431825357
NM_000059.4(BRCA2):c.8189C>T (p.Ala2730Val) rs80359067
NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val) rs398122712
NM_000059.4(BRCA2):c.8808G>C (p.Leu2936Phe) rs80359138
NM_000059.4(BRCA2):c.8824G>A (p.Ala2942Thr) rs80359139
NM_000059.4(BRCA2):c.8835G>C (p.Gln2945His) rs1566252630
NM_000059.4(BRCA2):c.8860T>C (p.Ser2954Pro) rs886041145
NM_000059.4(BRCA2):c.8944_8946del (p.Lys2982del) rs80359733
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2]) rs786202063
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.4(BRCA2):c.9284A>G (p.Asp3095Gly) rs1060502443
NM_000059.4(BRCA2):c.941A>T (p.Lys314Ile)
NM_000059.4(BRCA2):c.9501+8T>C rs1555289625
NM_000059.4(BRCA2):c.9521A>G (p.Asn3174Ser) rs1555289773
NM_000059.4(BRCA2):c.9562G>A (p.Asp3188Asn) rs80359226
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9719T>G (p.Val3240Gly) rs1566260882
NM_000059.4(BRCA2):c.9824G>A (p.Ser3275Asn) rs864622720

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