List of variants reported as likely pathogenic for Lynch syndrome 4 by Myriad Genetics, Inc.

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 107

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HGVS	dbSNP	gnomAD frequency
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.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.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.804-2A>G	rs1307026290	0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=)	rs876659736	0.00001
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.137G>A (p.Ser46Asn)	rs121434629
NM_000535.7(PMS2):c.163+1G>A	rs1064795705
NM_000535.7(PMS2):c.163+1G>T	rs1064795705
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.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.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.221G>A (p.Gly74Glu)
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.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.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.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.2533del (p.His845fs)	rs1064796500
NM_000535.7(PMS2):c.2534A>G (p.His845Arg)	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.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.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>T
NM_000535.7(PMS2):c.538-65_589delinsGCAACATCCAATTGGT
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.790_803+5del
NM_000535.7(PMS2):c.793_803+7del
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>T
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.988+1G>C	rs757110564
NM_000535.7(PMS2):c.988+1G>T	rs757110564
NM_000535.7(PMS2):c.989-1G>C

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