ClinVar Miner

List of variants reported as likely pathogenic for Breast and/or ovarian cancer by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_032043.3(BRIP1):c.918+1G>A rs587781655 0.00006
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter) rs750621215 0.00002
NM_000051.4(ATM):c.8584+2T>C rs730881326 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_058216.3(RAD51C):c.904+5G>T rs587782702 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_000051.4(ATM):c.2467-2A>G rs1555082050
NM_000051.4(ATM):c.3952del (p.Val1318fs) rs1591646354
NM_000051.4(ATM):c.5319+1_5319+10del
NM_000051.4(ATM):c.5866_5870del (p.Leu1956fs)
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6372C>G (p.Tyr2124Ter)
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs) rs1555122030
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8644_8647del (p.Ser2882fs) rs2137083265
NM_000051.4(ATM):c.9061G>T (p.Glu3021Ter) rs2091244384
NM_000059.3(BRCA2):c.9064delinsGG (p.Arg3022fs) rs1566253262
NM_000059.4(BRCA2):c.1888dup (p.Thr630fs) rs80359314
NM_000059.4(BRCA2):c.262_263del (p.Leu88fs) rs276174825
NM_000059.4(BRCA2):c.2704dup (p.Ala902fs) rs2072463288
NM_000059.4(BRCA2):c.2760del (p.Ile921fs) rs80359346
NM_000059.4(BRCA2):c.3468dup (p.Glu1157Ter) rs2137496891
NM_000059.4(BRCA2):c.4003G>T (p.Glu1335Ter) rs747070579
NM_000059.4(BRCA2):c.4076del (p.Thr1359fs) rs80359424
NM_000059.4(BRCA2):c.4803dup (p.Lys1602Ter) rs2072513173
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.4(BRCA2):c.5862_5863del (p.Ser1955fs) rs786202700
NM_000059.4(BRCA2):c.6341del (p.Pro2114fs)
NM_000059.4(BRCA2):c.6514_6515del (p.Ser2172fs) rs886040662
NM_000059.4(BRCA2):c.6643del (p.Tyr2215fs) rs80359614
NM_000059.4(BRCA2):c.7008-1G>A rs786204280
NM_000059.4(BRCA2):c.728_729del (p.Asn243fs) rs1593890204
NM_000059.4(BRCA2):c.7471del (p.Gln2491fs) rs886038170
NM_000059.4(BRCA2):c.7843_7844del (p.Ile2615fs) rs886040867
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.4(BRCA2):c.8168A>T (p.Asp2723Val) rs41293513
NM_000059.4(BRCA2):c.8327T>G (p.Leu2776Ter) rs397507977
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9281C>G (p.Ser3094Ter) rs786204283
NM_000059.4(BRCA2):c.9289dup (p.Cys3097fs) rs2137652215
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000179.3(MSH6):c.3646+2del rs2104526796
NM_000179.3(MSH6):c.3917_3938dup (p.Ile1313_Gln1314insTer) rs1553333584
NM_000314.8(PTEN):c.545_546dup (p.Lys183Ter)
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000546.6(TP53):c.166G>T (p.Glu56Ter) rs2151042536
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_002878.4(RAD51D):c.748del (p.His250fs) rs587780105
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter) rs2146151890
NM_007194.4(CHEK2):c.1266_1267dup (p.Gly423fs)
NM_007194.4(CHEK2):c.1461+2T>C rs779844113
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.247del (p.Gln83fs) rs587782766
NM_007194.4(CHEK2):c.655del (p.Glu219fs) rs786202497
NM_007194.4(CHEK2):c.952del (p.Arg318fs) rs749153163
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe) rs80357498
NM_007294.4(BRCA1):c.1386dup (p.Lys463fs) rs80357722
NM_007294.4(BRCA1):c.1440_1441insA (p.Leu481fs) rs80357778
NM_007294.4(BRCA1):c.2643del (p.Glu881fs) rs397508989
NM_007294.4(BRCA1):c.3690dup (p.Phe1231fs) rs1567790559
NM_007294.4(BRCA1):c.3997del (p.Val1333fs)
NM_007294.4(BRCA1):c.4085dup (p.Asp1362fs) rs2053470202
NM_007294.4(BRCA1):c.441+2T>A rs397509173
NM_007294.4(BRCA1):c.5116G>C (p.Gly1706Arg) rs886040864
NM_007294.4(BRCA1):c.5332_5332+6delinsT rs2153051225
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys) rs80356929
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_024675.4(PALB2):c.2293_2294dup (p.Asp765fs)
NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter) rs876658983
NM_024675.4(PALB2):c.3114-1G>C rs886039619
NM_024675.4(PALB2):c.3291_3300delinsACG (p.Lys1098fs)
NM_024675.4(PALB2):c.3483del (p.Phe1161fs) rs2142252781
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter) rs587781292
NM_032043.3(BRIP1):c.2012del (p.Glu671fs)
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter) rs1257401983
NM_032043.3(BRIP1):c.637del (p.His213fs)
NM_058216.3(RAD51C):c.572-1G>T rs1413872299
NM_058216.3(RAD51C):c.630T>G (p.Tyr210Ter) rs786201909
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn) rs755849719

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