List of variants reported as uncertain significance for breast cancer by Institute of Human Genetics, University of Leipzig Medical Center

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 89

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HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	rs17879961	0.00434
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)	rs4988345	0.00363
NM_032043.3(BRIP1):c.2097+7G>A	rs4988352	0.00271
NM_002485.5(NBN):c.511A>G (p.Ile171Val)	rs61754966	0.00145
NM_000051.4(ATM):c.1066-6T>G	rs201686625	0.00139
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)	rs11212587	0.00124
NM_024675.4(PALB2):c.1194G>A (p.Val398=)	rs61755173	0.00103
NM_000245.4(MET):c.406G>A (p.Val136Ile)	rs199701987	0.00058
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)	rs45589637	0.00041
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)	rs142763740	0.00032
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)	rs63750124	0.00031
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)	rs150624408	0.00026
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)	rs56399857	0.00019
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)	rs200911775	0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)	rs121913049	0.00013
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)	rs3092907	0.00011
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)	rs121964872	0.00011
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)	rs146198085	0.00009
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr)	rs200283306	0.00009
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)	rs63750466	0.00008
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)	rs137853009	0.00006
NM_000051.4(ATM):c.659C>T (p.Ala220Val)	rs145355104	0.00005
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu)	rs587781312	0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)	rs121908705	0.00004
NM_000455.5(STK11):c.1193C>T (p.Ala398Val)	rs768058962	0.00003
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)	rs587780021	0.00003
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys)	rs587780045	0.00003
NM_024675.4(PALB2):c.3035C>T (p.Thr1012Ile)	rs761032954	0.00003
NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser)	rs730881878	0.00003
NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser)	rs373400041	0.00002
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr)	rs55962656	0.00002
NM_000465.4(BARD1):c.1693C>T (p.Arg565Cys)	rs587782279	0.00002
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)	rs373073383	0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys)	rs587780194	0.00002
NM_000051.4(ATM):c.2251-10T>G	rs730881346	0.00001
NM_000051.4(ATM):c.280A>G (p.Met94Val)	rs864622758	0.00001
NM_000051.4(ATM):c.3331C>G (p.Leu1111Val)	rs587779832	0.00001
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro)	rs747800057	0.00001
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)	rs56399311	0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)	rs202206540	0.00001
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu)	rs147695170	0.00001
NM_000059.4(BRCA2):c.7769C>G (p.Ser2590Cys)	rs786202615	0.00001
NM_000179.3(MSH6):c.3893A>G (p.Tyr1298Cys)	rs786202520	0.00001
NM_000465.4(BARD1):c.2057A>G (p.His686Arg)	rs864622380	0.00001
NM_004360.5(CDH1):c.1171G>A (p.Val391Ile)	rs556110297	0.00001
NM_032043.3(BRIP1):c.2258A>G (p.Asp753Gly)	rs745578572	0.00001
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu)	rs747907706	0.00001
NM_000051.4(ATM):c.1194T>A (p.Asp398Glu)	rs551872656
NM_000051.4(ATM):c.492G>T (p.Trp164Cys)	rs1555059530
NM_000051.4(ATM):c.5866C>T (p.Leu1956Phe)	rs1565489956
NM_000051.4(ATM):c.6758A>G (p.Lys2253Arg)	rs786203332
NM_000051.4(ATM):c.7517_7520del	rs587781905
NM_000051.4(ATM):c.8441A>G (p.Glu2814Gly)
NM_000051.4(ATM):c.9021A>C (p.Glu3007Asp)	rs1565608897
NM_000059.4(BRCA2):c.539T>C (p.Ile180Thr)	rs80358761
NM_000059.4(BRCA2):c.7951A>G (p.Arg2651Gly)	rs1555286865
NM_000059.4(BRCA2):c.8204C>G (p.Pro2735Arg)	rs730881564
NM_000059.4(BRCA2):c.9685C>T (p.Pro3229Ser)	rs1064793542
NM_000059.4(BRCA2):c.9919A>G (p.Lys3307Glu)
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)	rs63750998
NM_000179.3(MSH6):c.3969T>G (p.Phe1323Leu)	rs1057520473
NM_000249.4(MLH1):c.2155A>G (p.Ile719Val)	rs754225520
NM_000251.3(MSH2):c.1661+3T>G	rs1064793688
NM_000251.3(MSH2):c.2697G>T (p.Met899Ile)	rs878853813
NM_000264.5(PTCH1):c.2987C>G (p.Thr996Ser)	rs1839125790
NM_000455.5(STK11):c.465-4G>A	rs587780009
NM_000465.4(BARD1):c.2216A>G (p.Tyr739Cys)	rs777013688
NM_000465.4(BARD1):c.895A>G (p.Thr299Ala)	rs1694983227
NM_004360.5(CDH1):c.1073C>G (p.Thr358Arg)	rs1191901557
NM_004360.5(CDH1):c.1634G>A (p.Arg545Gln)	rs587780115
NM_004360.5(CDH1):c.2396C>G (p.Pro799Arg)	rs587781335
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu)	rs74751600
NM_007194.4(CHEK2):c.1461+5G>A	rs769841229
NM_007194.4(CHEK2):c.1563del (p.Arg523fs)	rs786202339
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1])	rs587780181
NM_007194.4(CHEK2):c.322T>C (p.Cys108Arg)	rs730881681
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr)	rs786203192
NM_007194.4(CHEK2):c.445G>A (p.Glu149Lys)	rs587782560
NM_007194.4(CHEK2):c.677T>C (p.Leu226Pro)	rs1296957097
NM_007194.4(CHEK2):c.917G>T (p.Gly306Val)	rs587780192
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro)	rs41293459
NM_024675.4(PALB2):c.1407C>G (p.Cys469Trp)	rs730881883
NM_032043.2(BRIP1):c.1474-7C>A	rs886041146
NM_032043.3(BRIP1):c.1184C>T (p.Ala395Val)	rs778992385
NM_032043.3(BRIP1):c.1852T>C (p.Ser618Pro)	rs876660191
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu)	rs587781321
NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser)	rs889877039
NM_032043.3(BRIP1):c.749C>G (p.Thr250Arg)	rs1555609275
NM_032043.3(BRIP1):c.93+4_93+7del	rs1224034842

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