List of variants in gene POLE reported as uncertain significance by PreventionGenetics, part of Exact Sciences

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 116

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HGVS	dbSNP	gnomAD frequency
NM_006231.4(POLE):c.5659G>A (p.Val1887Met)	rs114119067	0.00047
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)	rs151273553	0.00046
NM_006231.4(POLE):c.2171C>T (p.Ala724Val)	rs61734163	0.00040
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr)	rs113998091	0.00034
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser)	rs137860861	0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)	rs201115064	0.00024
NM_006231.4(POLE):c.691C>T (p.Arg231Cys)	rs146592584	0.00023
NM_006231.4(POLE):c.1184G>A (p.Gly395Glu)	rs546499094	0.00022
NM_006231.4(POLE):c.1597G>A (p.Val533Met)	rs374140892	0.00018
NM_006231.4(POLE):c.5636G>A (p.Arg1879His)	rs145621558	0.00018
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu)	rs373768478	0.00018
NM_006231.4(POLE):c.154C>T (p.Arg52Trp)	rs115452881	0.00016
NM_006231.4(POLE):c.3245G>A (p.Arg1082His)	rs201744227	0.00016
NM_006231.4(POLE):c.3716A>G (p.Gln1239Arg)	rs146210785	0.00016
NM_006231.4(POLE):c.2974G>A (p.Ala992Thr)	rs115193764	0.00015
NM_006231.4(POLE):c.4237G>A (p.Glu1413Lys)	rs372901803	0.00014
NM_006231.4(POLE):c.6274G>A (p.Gly2092Ser)	rs757559474	0.00012
NM_006231.4(POLE):c.6674G>A (p.Arg2225His)	rs538875477	0.00012
NM_006231.4(POLE):c.4660G>A (p.Glu1554Lys)	rs143247306	0.00011
NM_006231.4(POLE):c.940T>G (p.Ser314Ala)	rs770403791	0.00011
NM_006231.4(POLE):c.556G>A (p.Ala186Thr)	rs375213599	0.00010
NM_006231.4(POLE):c.431A>G (p.His144Arg)	rs755709875	0.00009
NM_006231.4(POLE):c.1868A>G (p.Tyr623Cys)	rs150564856	0.00008
NM_006231.4(POLE):c.4168C>T (p.Arg1390Cys)	rs768504121	0.00008
NM_006231.4(POLE):c.4736G>A (p.Arg1579His)	rs375590443	0.00008
NM_006231.4(POLE):c.1106+20A>G	rs200322118	0.00006
NM_006231.4(POLE):c.122C>T (p.Thr41Met)	rs148269473	0.00006
NM_006231.4(POLE):c.3620C>T (p.Pro1207Leu)	rs144086049	0.00006
NM_006231.4(POLE):c.844C>T (p.Pro282Ser)	rs138207610	0.00005
NM_006231.4(POLE):c.2131T>C (p.Ser711Pro)	rs374800058	0.00004
NM_006231.4(POLE):c.461G>A (p.Arg154Lys)	rs769882912	0.00004
NM_006231.4(POLE):c.4739G>A (p.Arg1580Gln)	rs201950040	0.00004
NM_006231.4(POLE):c.5515C>T (p.Arg1839Cys)	rs141519273	0.00004
NM_006231.4(POLE):c.6575C>T (p.Ala2192Val)	rs756301031	0.00004
NM_006231.4(POLE):c.909G>C (p.Gln303His)	rs779801916	0.00004
NM_006231.4(POLE):c.274A>C (p.Ser92Arg)	rs758382516	0.00003
NM_006231.4(POLE):c.6068C>T (p.Thr2023Ile)	rs771628123	0.00003
NM_006231.4(POLE):c.6408C>T (p.Gly2136=)	rs1057524549	0.00003
NM_006231.4(POLE):c.1717C>T (p.Arg573Trp)	rs373000452	0.00002
NM_006231.4(POLE):c.350C>T (p.Ser117Leu)	rs372057971	0.00002
NM_006231.4(POLE):c.4900C>T (p.Arg1634Cys)	rs769762523	0.00002
NM_006231.4(POLE):c.553G>A (p.Asp185Asn)	rs369506007	0.00002
NM_006231.4(POLE):c.6796G>A (p.Gly2266Ser)	rs200911338	0.00002
NM_006231.4(POLE):c.100C>T (p.Arg34Cys)	rs771051323	0.00001
NM_006231.4(POLE):c.1516A>G (p.Met506Val)	rs773634913	0.00001
NM_006231.4(POLE):c.1856G>A (p.Cys619Tyr)	rs752456199	0.00001
NM_006231.4(POLE):c.241G>A (p.Ala81Thr)	rs749720207	0.00001
NM_006231.4(POLE):c.2459T>C (p.Met820Thr)	rs767460640	0.00001
NM_006231.4(POLE):c.2562-2A>C	rs751662353	0.00001
NM_006231.4(POLE):c.2612G>C (p.Ser871Thr)	rs770470552	0.00001
NM_006231.4(POLE):c.320C>T (p.Ala107Val)	rs878854860	0.00001
NM_006231.4(POLE):c.3479G>A (p.Arg1160His)	rs757902862	0.00001
NM_006231.4(POLE):c.3617G>T (p.Arg1206Met)	rs1060500839	0.00001
NM_006231.4(POLE):c.3623G>A (p.Ser1208Asn)	rs781094608	0.00001
NM_006231.4(POLE):c.3692G>A (p.Arg1231Lys)	rs1271903915	0.00001
NM_006231.4(POLE):c.391G>T (p.Val131Leu)	rs745601745	0.00001
NM_006231.4(POLE):c.4454G>A (p.Arg1485His)	rs973405989	0.00001
NM_006231.4(POLE):c.452A>G (p.Asn151Ser)	rs969812647	0.00001
NM_006231.4(POLE):c.4646C>G (p.Pro1549Arg)	rs577952179	0.00001
NM_006231.4(POLE):c.5312C>T (p.Thr1771Met)	rs777695766	0.00001
NM_006231.4(POLE):c.5608C>T (p.Arg1870Cys)	rs138231414	0.00001
NM_006231.4(POLE):c.5782A>G (p.Lys1928Glu)	rs2042022711	0.00001
NM_006231.4(POLE):c.5900C>T (p.Ala1967Val)	rs201273415	0.00001
NM_006231.4(POLE):c.5914G>A (p.Val1972Met)	rs774726229	0.00001
NM_006231.4(POLE):c.6065G>A (p.Ser2022Asn)	rs905858506	0.00001
NM_006231.4(POLE):c.6073G>A (p.Val2025Met)	rs995579204	0.00001
NM_006231.4(POLE):c.6628A>C (p.Lys2210Gln)	rs1284697545	0.00001
NM_006231.4(POLE):c.6640T>G (p.Phe2214Val)	rs1251545206	0.00001
NM_006231.4(POLE):c.712A>T (p.Ile238Phe)	rs536684123	0.00001
NM_006231.4(POLE):c.895A>G (p.Met299Val)	rs370727992	0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter)	rs869312803	0.00001
NM_006231.4(POLE):c.1016A>T (p.Asp339Val)	rs1060500865
NM_006231.4(POLE):c.1175A>G (p.Asp392Gly)	rs878854840
NM_006231.4(POLE):c.1180C>T (p.Gln394Ter)	rs1565975090
NM_006231.4(POLE):c.1257G>A (p.Val419=)	rs1565973352
NM_006231.4(POLE):c.1499T>C (p.Leu500Pro)	rs775457973
NM_006231.4(POLE):c.1859C>T (p.Pro620Leu)	rs1565966691
NM_006231.4(POLE):c.2019C>T (p.Gly673=)	rs748614767
NM_006231.4(POLE):c.2030C>T (p.Pro677Leu)
NM_006231.4(POLE):c.2083T>G (p.Phe695Val)	rs5744799
NM_006231.4(POLE):c.2089C>A (p.Pro697Thr)	rs5744800
NM_006231.4(POLE):c.2089C>G (p.Pro697Ala)	rs5744800
NM_006231.4(POLE):c.2091dup (p.Phe699fs)	rs752846614
NM_006231.4(POLE):c.2375A>G (p.Lys792Arg)	rs2042772263
NM_006231.4(POLE):c.2465A>G (p.Lys822Arg)	rs986217332
NM_006231.4(POLE):c.2465_2467dup (p.Lys822_Gly823insGlu)	rs1237046519
NM_006231.4(POLE):c.2722G>A (p.Asp908Asn)	rs1565958703
NM_006231.4(POLE):c.3083A>G (p.Glu1028Gly)
NM_006231.4(POLE):c.3139G>A (p.Gly1047Arg)	rs1555225676
NM_006231.4(POLE):c.3160A>G (p.Ile1054Val)	rs2042629769
NM_006231.4(POLE):c.3318G>T (p.Arg1106Ser)	rs760237541
NM_006231.4(POLE):c.3370A>G (p.Ile1124Val)	rs2042580779
NM_006231.4(POLE):c.3431TCA[1] (p.Ile1145del)	rs976070874
NM_006231.4(POLE):c.3716A>T (p.Gln1239Leu)	rs146210785
NM_006231.4(POLE):c.3818G>T (p.Arg1273Leu)	rs377324348
NM_006231.4(POLE):c.3857G>T (p.Arg1286Leu)	rs771823596
NM_006231.4(POLE):c.3881G>T (p.Arg1294Leu)	rs115455318
NM_006231.4(POLE):c.4181T>G (p.Val1394Gly)	rs2138561597
NM_006231.4(POLE):c.4331T>C (p.Val1444Ala)	rs767189495
NM_006231.4(POLE):c.4476C>A (p.His1492Gln)	rs5744943
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly)	rs766511597
NM_006231.4(POLE):c.4663G>A (p.Val1555Ile)	rs1060500799
NM_006231.4(POLE):c.5275G>A (p.Asp1759Asn)	rs768559928
NM_006231.4(POLE):c.5333C>T (p.Ala1778Val)	rs2138523727
NM_006231.4(POLE):c.5378+1G>T	rs747165215
NM_006231.4(POLE):c.5534T>A (p.Met1845Lys)	rs2042090697
NM_006231.4(POLE):c.5569A>G (p.Lys1857Glu)	rs773659817
NM_006231.4(POLE):c.5668A>G (p.Ile1890Val)	rs745804149
NM_006231.4(POLE):c.5794C>T (p.Arg1932Cys)	rs879254168
NM_006231.4(POLE):c.5895_5896delinsGGAAC (p.Glu1966_Ala1967insGln)	rs1593712239
NM_006231.4(POLE):c.5907A>C (p.Glu1969Asp)	rs1060504069
NM_006231.4(POLE):c.6427C>A (p.Gln2143Lys)	rs1566309175
NM_006231.4(POLE):c.6518_6519del (p.Ser2173fs)	rs774417192
NM_006231.4(POLE):c.6682_6684del (p.Lys2228del)	rs878854896
NM_006231.4(POLE):c.840A>C (p.Lys280Asn)	rs908089476
NM_006231.4(POLE):c.991C>T (p.Pro331Ser)	rs994360398

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