List of variants in gene PMS2 reported as likely pathogenic for Lynch syndrome 4

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: 184

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	rs121434629	0.00018
NM_000535.7(PMS2):c.1A>G (p.Met1Val)	rs587779333	0.00004
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)	rs267608161	0.00003
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)	rs587779338	0.00002
NM_000535.7(PMS2):c.1144+1G>A	rs373885654	0.00001
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)	rs587778617	0.00001
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)	rs1064794577	0.00001
NM_000535.7(PMS2):c.164-1G>A	rs763308607	0.00001
NM_000535.7(PMS2):c.2007-2A>C	rs587782336	0.00001
NM_000535.7(PMS2):c.2174+1G>A	rs267608172	0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)	rs587779337	0.00001
NM_000535.7(PMS2):c.23+1G>T	rs587782074	0.00001
NM_000535.7(PMS2):c.251-2A>T	rs587779340	0.00001
NM_000535.7(PMS2):c.2T>C (p.Met1Thr)	rs587780059	0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)	rs188006077	0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His)	rs730881917	0.00001
NM_000535.7(PMS2):c.538-1G>C	rs988423880	0.00001
NM_000535.7(PMS2):c.538-2A>G	rs758304323	0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)	rs587779342	0.00001
NM_000535.7(PMS2):c.706-2A>G	rs745487791	0.00001
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)	rs1458321358	0.00001
NM_000535.7(PMS2):c.804-2A>G	rs1307026290	0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=)	rs876659736	0.00001
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs)	rs1583334346
NM_000535.7(PMS2):c.1112A>T (p.Asn371Ile)	rs1783517960
NM_000535.7(PMS2):c.1144+1G>C	rs373885654
NM_000535.7(PMS2):c.1144+1G>T	rs373885654
NM_000535.7(PMS2):c.1144+1del	rs2128746842
NM_000535.7(PMS2):c.1144+2T>A	rs267608158
NM_000535.7(PMS2):c.1144+2T>G
NM_000535.7(PMS2):c.1145-2A>G	rs1325835006
NM_000535.7(PMS2):c.1151T>A (p.Leu384Ter)
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
NM_000535.7(PMS2):c.1281del (p.His428fs)	rs1783147885
NM_000535.7(PMS2):c.1366del (p.Ser456fs)	rs1583320992
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)	rs121434629
NM_000535.7(PMS2):c.1418_1419del (p.Glu473fs)	rs1783098862
NM_000535.7(PMS2):c.1552G>T (p.Glu518Ter)
NM_000535.7(PMS2):c.155dup (p.Thr52_Asn53insTer)
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer)	rs1554306288
NM_000535.7(PMS2):c.163+1G>A	rs1064795705
NM_000535.7(PMS2):c.163+1G>T	rs1064795705
NM_000535.7(PMS2):c.163+5G>C
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)	rs863224498
NM_000535.7(PMS2):c.164-1G>C	rs763308607
NM_000535.7(PMS2):c.164-1G>T
NM_000535.7(PMS2):c.164-2A>C
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
NM_000535.7(PMS2):c.1709dup (p.Asn570fs)	rs1783004175
NM_000535.7(PMS2):c.1721del (p.Pro574fs)	rs1583316404
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)	rs1057515572
NM_000535.7(PMS2):c.1778del (p.Lys593fs)	rs766389591
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)	rs63750456
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter)	rs1064793426
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	rs63750250
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs)	rs756358866
NM_000535.7(PMS2):c.1882_1886dup (p.Lys630fs)
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)	rs1554297125
NM_000535.7(PMS2):c.1938del (p.Lys647fs)	rs2128720948
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val)	rs869320619
NM_000535.7(PMS2):c.2006+1G>A	rs1554297040
NM_000535.7(PMS2):c.2006_2006+4del	rs771928911
NM_000535.7(PMS2):c.2007-1G>A	rs267608170
NM_000535.7(PMS2):c.2007-1G>C
NM_000535.7(PMS2):c.2007-1_2009del
NM_000535.7(PMS2):c.2007-2A>G	rs587782336
NM_000535.7(PMS2):c.2007-4_2007-1delinsACAC	rs1562616355
NM_000535.7(PMS2):c.2039G>A (p.Gly680Asp)
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)	rs587781317
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)	rs876659900
NM_000535.7(PMS2):c.2174+1G>C	rs267608172
NM_000535.7(PMS2):c.2174+1G>T
NM_000535.7(PMS2):c.2175-1G>A
NM_000535.7(PMS2):c.2175-1G>C	rs1562605623
NM_000535.7(PMS2):c.2175-2A>G
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)	rs587779335
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg)	rs1554304979
NM_000535.7(PMS2):c.2212_2213del (p.Val738fs)
NM_000535.7(PMS2):c.221G>A (p.Gly74Glu)
NM_000535.7(PMS2):c.2233del (p.Ile745fs)
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys)	rs200824831
NM_000535.7(PMS2):c.2247T>G (p.Asn749Lys)
NM_000535.7(PMS2):c.2275+1G>A	rs1554294393
NM_000535.7(PMS2):c.2275+1G>C	rs1554294393
NM_000535.7(PMS2):c.2275+1G>T	rs1554294393
NM_000535.7(PMS2):c.2275+2T>C	rs1562604682
NM_000535.7(PMS2):c.2276-2A>C	rs1554294019
NM_000535.7(PMS2):c.23+1G>A	rs587782074
NM_000535.7(PMS2):c.2324dup (p.Asn775fs)
NM_000535.7(PMS2):c.236_239del (p.Asn79fs)
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs)	rs2128672594
NM_000535.7(PMS2):c.24-12_107delinsAAAT	rs1554306445
NM_000535.7(PMS2):c.24-1G>A	rs1785723689
NM_000535.7(PMS2):c.24-5_26del
NM_000535.7(PMS2):c.2410A>T (p.Lys804Ter)	rs2128672286
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)	rs730881919
NM_000535.7(PMS2):c.2445+1G>A	rs876661113
NM_000535.7(PMS2):c.2445+1G>C	rs876661113
NM_000535.7(PMS2):c.2445+1G>T	rs876661113
NM_000535.7(PMS2):c.2465T>C (p.Leu822Pro)	rs587781636
NM_000535.7(PMS2):c.2489T>C (p.Leu830Pro)	rs1781502574
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)	rs587781626
NM_000535.7(PMS2):c.2501T>C (p.Met834Thr)
NM_000535.7(PMS2):c.2506del (p.Glu836fs)	rs2128658092
NM_000535.7(PMS2):c.251-1G>C
NM_000535.7(PMS2):c.251-1G>T	rs764171734
NM_000535.7(PMS2):c.251-2A>C	rs587779340
NM_000535.7(PMS2):c.2528G>C (p.Cys843Ser)
NM_000535.7(PMS2):c.2529del (p.His845fs)
NM_000535.7(PMS2):c.2531C>A (p.Pro844His)	rs587782787
NM_000535.7(PMS2):c.2533del (p.His845fs)	rs1064796500
NM_000535.7(PMS2):c.2534A>G (p.His845Arg)	rs1554292741
NM_000535.7(PMS2):c.2534A>T (p.His845Leu)	rs1554292741
NM_000535.7(PMS2):c.2534del (p.His845fs)
NM_000535.7(PMS2):c.2535T>G (p.His845Gln)
NM_000535.7(PMS2):c.2549T>G (p.Met850Arg)	rs1781486223
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)	rs1554304745
NM_000535.7(PMS2):c.288dup (p.Asp97fs)
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)	rs587780059
NM_000535.7(PMS2):c.304del (p.Glu102fs)
NM_000535.7(PMS2):c.353+1G>A	rs113517055
NM_000535.7(PMS2):c.353+2T>C	rs111466480
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn)	rs1394474494
NM_000535.7(PMS2):c.354-1G>A	rs786203954
NM_000535.7(PMS2):c.354-2A>G	rs786202098
NM_000535.7(PMS2):c.452_457delinsCCCCC (p.Arg151fs)
NM_000535.7(PMS2):c.457del (p.Arg153fs)	rs1785207289
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter)	rs1785199575
NM_000535.7(PMS2):c.503dup (p.Arg169fs)
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter)	rs1221485925
NM_000535.7(PMS2):c.537+1G>A	rs863224450
NM_000535.7(PMS2):c.537+1del	rs1064793868
NM_000535.7(PMS2):c.538-1G>A	rs988423880
NM_000535.7(PMS2):c.538-2A>C	rs758304323
NM_000535.7(PMS2):c.538-2A>T
NM_000535.7(PMS2):c.538-65_589delinsGCAACATCCAATTGGT
NM_000535.7(PMS2):c.538G>T (p.Glu180Ter)
NM_000535.7(PMS2):c.564dup (p.His189fs)
NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs)	rs1784802468
NM_000535.7(PMS2):c.705+1G>A	rs267608147
NM_000535.7(PMS2):c.705+1G>T	rs267608147
NM_000535.7(PMS2):c.705+2T>C	rs1784783734
NM_000535.7(PMS2):c.706-1G>C
NM_000535.7(PMS2):c.706-1G>T
NM_000535.7(PMS2):c.706-2A>T	rs745487791
NM_000535.7(PMS2):c.746_753del (p.Asp249fs)	rs587782710
NM_000535.7(PMS2):c.746_755del (p.Asp249fs)
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)	rs1064794905
NM_000535.7(PMS2):c.778_781del (p.Ser260fs)
NM_000535.7(PMS2):c.790_803+5del
NM_000535.7(PMS2):c.793_803+7del
NM_000535.7(PMS2):c.79del (p.Cys27fs)
NM_000535.7(PMS2):c.803+1G>A	rs1562669585
NM_000535.7(PMS2):c.803+1G>T	rs1562669585
NM_000535.7(PMS2):c.803+2T>G
NM_000535.7(PMS2):c.804-10T>G	rs267608151
NM_000535.7(PMS2):c.804-11A>G
NM_000535.7(PMS2):c.804-1G>A	rs1562664845
NM_000535.7(PMS2):c.804-1G>C
NM_000535.7(PMS2):c.804-1G>T
NM_000535.7(PMS2):c.832dup (p.His278fs)
NM_000535.7(PMS2):c.841G>T (p.Gly281Ter)
NM_000535.7(PMS2):c.873del (p.Phe291fs)	rs1261282733
NM_000535.7(PMS2):c.903+1G>A	rs1554300689
NM_000535.7(PMS2):c.903+1G>C	rs1554300689
NM_000535.7(PMS2):c.903+1G>T	rs1554300689
NM_000535.7(PMS2):c.903+2T>C	rs878854059
NM_000535.7(PMS2):c.903G>A (p.Lys301=)	rs267608153
NM_000535.7(PMS2):c.903G>C (p.Lys301Asn)
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)	rs267608153
NM_000535.7(PMS2):c.904-1G>A	rs779064342
NM_000535.7(PMS2):c.904-2A>C	rs587781339
NM_000535.7(PMS2):c.904-2A>G	rs587781339
NM_000535.7(PMS2):c.917T>A (p.Val306Glu)	rs786201878
NM_000535.7(PMS2):c.939T>A (p.Tyr313Ter)	rs1562651617
NM_000535.7(PMS2):c.947dup (p.His316fs)
NM_000535.7(PMS2):c.988+1G>C	rs757110564
NM_000535.7(PMS2):c.988+1G>T	rs757110564
NM_000535.7(PMS2):c.989-1G>C
NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)
NM_000535.7:c.(1144+1_1145-1)_(2174+1_2175-1)dup

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