ClinVar Miner

List of variants reported as pathogenic for Breast and/or ovarian cancer by CZECANCA consortium

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ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021 0.00003
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_007294.4(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123 0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_002485.5(NBN):c.37+1G>A rs574673404 0.00002
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter) rs587781756 0.00002
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000179.3(MSH6):c.2779dup (p.Ile927fs) rs587782277 0.00001
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter) rs758972589 0.00001
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639 0.00001
NM_005732.4(RAD50):c.3050G>A (p.Trp1017Ter) rs1554099776 0.00001
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.4243del (p.Glu1415fs) rs80357981 0.00001
NG_005905.2:g.(113863_118103)_(118210_120694)del
NG_005905.2:g.(150377_154032)_(154652_160848)del
NM_000051.4(ATM):c.3850del (p.Thr1284fs) rs876660865
NM_000051.4(ATM):c.4197dup (p.Lys1400fs) rs2082645600
NM_000051.4(ATM):c.6096-9_6096-5del rs879254095
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1414C>T (p.Gln472Ter) rs80358429
NM_000059.4(BRCA2):c.1560_1561del (p.Ser521fs) rs886040374
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.2517C>A (p.Tyr839Ter) rs80358516
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs) rs80359365
NM_000059.4(BRCA2):c.3076A>T (p.Lys1026Ter) rs80358552
NM_000059.4(BRCA2):c.3195_3198del (p.Asn1066fs) rs80359375
NM_000059.4(BRCA2):c.3754del (p.Ser1252fs) rs2072487814
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3860del (p.Asn1287fs) rs80359406
NM_000059.4(BRCA2):c.3939del (p.Asn1312_Tyr1313insTer) rs276174838
NM_000059.4(BRCA2):c.3G>A (p.Met1Ile) rs80358650
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4544del (p.Lys1515fs) rs397507725
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer) rs80359459
NM_000059.4(BRCA2):c.476-2A>G rs81002853
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5641_5644del (p.Lys1881fs) rs276174860
NM_000059.4(BRCA2):c.5763dup (p.Ala1922fs) rs80359534
NM_000059.4(BRCA2):c.5909C>G (p.Ser1970Ter) rs80358824
NM_000059.4(BRCA2):c.6044T>A (p.Leu2015Ter) rs587776468
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6444dup (p.Ile2149fs) rs80359590
NM_000059.4(BRCA2):c.6449_6450del (p.Lys2150fs) rs80359594
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.4(BRCA2):c.6754dup (p.Ser2252fs) rs180670511
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer) rs80359686
NM_000059.4(BRCA2):c.8042_8043del (p.Thr2681fs) rs276174901
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly) rs41293513
NM_000059.4(BRCA2):c.8363G>A (p.Trp2788Ter) rs80359080
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs) rs80359714
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9117+2T>A rs397508038
NM_000059.4(BRCA2):c.9145dup (p.Tyr3049fs) rs2072912874
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs) rs80359763
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter) rs864622153
NM_000249.4(MLH1):c.142C>T (p.Gln48Ter) rs587778913
NM_000249.4(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.4(MLH1):c.2103+1dup rs2085487528
NM_000249.4(MLH1):c.381-75_454-739delinsTAAATC
NM_000251.3(MSH2):c.1500dup (p.Arg501fs) rs587779094
NM_000251.3(MSH2):c.1853del (p.Pro618fs) rs267607984
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs) rs750413473
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_002485.5(NBN):c.1393A>T (p.Lys465Ter) rs1563530658
NM_002485.5(NBN):c.1645A>T (p.Lys549Ter) rs1810540992
NM_002485.5(NBN):c.188del (p.Ile63fs) rs876659592
NM_002485.5(NBN):c.5G>A (p.Trp2Ter) rs1812244679
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002878.4(RAD51D):c.178C>T (p.Gln60Ter) rs1555570285
NM_002878.4(RAD51D):c.574C>T (p.Gln192Ter) rs2091602962
NM_002878.4(RAD51D):c.879del (p.Cys294fs) rs2091532104
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_005732.4(RAD50):c.3097_3098del (p.Glu1033fs) rs1751169439
NM_007194.4(CHEK2):c.100_101del (p.Gln34fs) rs2054330803
NM_007194.4(CHEK2):c.684-1G>A rs1298667185
NM_007294.4(BRCA1):c.1016del (p.Lys339fs) rs80357569
NM_007294.4(BRCA1):c.1068_1077del (p.Gln356fs) rs397508830
NM_007294.4(BRCA1):c.1127del (p.Asn376fs) rs80357821
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.4(BRCA1):c.1403del (p.Lys468fs) rs397508870
NM_007294.4(BRCA1):c.1510del (p.Arg504fs) rs80357908
NM_007294.4(BRCA1):c.1600C>T (p.Gln534Ter) rs142074233
NM_007294.4(BRCA1):c.2024dup (p.Thr676fs) rs2053840407
NM_007294.4(BRCA1):c.213-12A>G rs80358163
NM_007294.4(BRCA1):c.2263G>T (p.Glu755Ter) rs41286296
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs) rs80357664
NM_007294.4(BRCA1):c.2488_2497dup (p.Leu833Ter) rs397508973
NM_007294.4(BRCA1):c.2762del (p.Gln921fs) rs80357703
NM_007294.4(BRCA1):c.3018_3021del (p.His1006fs) rs80357749
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.4(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.4(BRCA1):c.3642_3643del (p.Asn1215fs) rs80357805
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs) rs80357609
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.3868A>T (p.Lys1290Ter) rs80357254
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.4(BRCA1):c.4052T>A (p.Leu1351Ter) rs397509132
NM_007294.4(BRCA1):c.4062_4068del (p.Asn1354fs) rs397509134
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.4(BRCA1):c.4214del (p.Ile1405fs) rs273900728
NM_007294.4(BRCA1):c.4339C>T (p.Gln1447Ter) rs80357067
NM_007294.4(BRCA1):c.4484+1G>T rs80358063
NM_007294.4(BRCA1):c.4574_4575del (p.Gln1525fs) rs80357813
NM_007294.4(BRCA1):c.4666C>T (p.Gln1556Ter) rs1555581812
NM_007294.4(BRCA1):c.4668del (p.Asp1557fs) rs886040242
NM_007294.4(BRCA1):c.4676-1G>A rs80358008
NM_007294.4(BRCA1):c.505C>T (p.Gln169Ter) rs80357133
NM_007294.4(BRCA1):c.5177_5178del (p.Arg1726fs) rs80357730
NM_007294.4(BRCA1):c.5194-2834_5278-1824del
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5278-492_5407-128delinsGTAATCCCAGCTATTTGGGAGGCTAAGGCACGAGAATCACTTGAACCTGGGAGCTGGAGACTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGACTGGCCAACAGAATCAGACAAAAAATTAGCTAGTTGTTGTGGCACATGCCTGTAATCCTAGCCACTTGGGAGGCCAAGGCACAAGAATTGAACAAGGTTTGAACTTGGGAGGTGAAGGTTGCAGTGAGCAGAGATAGTGG
NM_007294.4(BRCA1):c.5341G>T (p.Glu1781Ter) rs397509268
NM_007294.4(BRCA1):c.5511G>A (p.Trp1837Ter) rs80356914
NM_007294.4(BRCA1):c.55C>T (p.Gln19Ter) rs397509299
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.694del (p.Asp232fs) rs2054064686
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.843_846del (p.Ser282fs) rs80357919
NM_007294.4(BRCA1):c.963G>A (p.Trp321Ter) rs886040335
NM_007294.4:c.(670+1_671-1)_(4185+1_4186-1)del
NM_024675.4(PALB2):c.1193_1194del (p.Val398fs) rs1966986126
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter) rs773829275
NM_024675.4(PALB2):c.509_510del (p.Arg170fs) rs515726123
NM_024675.4(PALB2):c.654del (p.Asp219fs) rs587781697
NM_024675.4(PALB2):c.697del (p.Val233fs) rs180177090
NM_032043.3(BRIP1):c.-206_94-576delinsCTAAAAATCCAAAATTAGCTGGGCGTGGTGGCGCA
NM_032043.3(BRIP1):c.1049del (p.Cys350fs) rs2077989420
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs) rs1064794202
NM_032043.3(BRIP1):c.1889del (p.Thr630fs) rs1064793626
NM_032043.3(BRIP1):c.1_2del (p.Met1fs) rs876661246
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer) rs760551339
NM_058216.3(RAD51C):c.379_380insG (p.Pro127fs) rs2047958236
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) rs587781490
NM_058216.3(RAD51C):c.664C>T (p.Gln222Ter) rs2048273755

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