List of variants reported as likely pathogenic for Lynch syndrome by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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		ClinVar version:

Total variants: 82

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HGVS	dbSNP	gnomAD frequency
NM_000249.4(MLH1):c.116+5G>A	rs267607710	0.00003
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_000535.7(PMS2):c.2444C>T (p.Ser815Leu)	rs587779338	0.00002
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)	rs587779227	0.00001
NM_000179.3(MSH6):c.2779dup (p.Ile927fs)	rs587782277	0.00001
NM_000179.3(MSH6):c.3660_3663dup (p.Phe1222fs)	rs752404604	0.00001
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser)	rs587779285	0.00001
NM_000535.7(PMS2):c.1144+1G>A	rs373885654	0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)	rs730881915	0.00001
NM_000535.7(PMS2):c.2382dup (p.Gly795fs)	rs1231406078	0.00001
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)	rs63751466	0.00001
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)	rs1064794083	0.00001
NM_000535.7(PMS2):c.538-2A>G	rs758304323	0.00001
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)	rs587779204
NM_000179.3(MSH6):c.1189dup (p.Tyr397fs)	rs1553412609
NM_000179.3(MSH6):c.1352del (p.Phe451fs)	rs869312769
NM_000179.3(MSH6):c.1630del (p.Glu544fs)
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)	rs63750138
NM_000179.3(MSH6):c.2410_2411insT (p.Lys804fs)
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter)	rs746306598
NM_000179.3(MSH6):c.2534_2538del (p.Met844_Tyr845insTer)
NM_000179.3(MSH6):c.260+2T>A	rs1553408469
NM_000179.3(MSH6):c.260+2T>G
NM_000179.3(MSH6):c.2759del (p.Lys920fs)	rs1114167794
NM_000179.3(MSH6):c.2974G>T (p.Glu992Ter)	rs774755404
NM_000179.3(MSH6):c.3173-1G>C	rs397515875
NM_000179.3(MSH6):c.3195_3199del (p.Asn1065fs)	rs1384780420
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs)	rs863225406
NM_000179.3(MSH6):c.3261_3262del (p.Phe1088fs)	rs1669747095
NM_000179.3(MSH6):c.3430_3431insAA (p.Met1144fs)
NM_000179.3(MSH6):c.3556+2T>G
NM_000179.3(MSH6):c.3619_3620del (p.His1207fs)	rs1572741984
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro)	rs864622041
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)	rs1572747278
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs)	rs730881830
NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)	rs1572747685
NM_000179.3(MSH6):c.675_676dup (p.Glu226fs)	rs2104290462
NM_000179.3(MSH6):c.742dup (p.Arg248fs)	rs1572720192
NM_000179.3(MSH6):c.[3601C>G;3724C>A]
NM_000249.4(MLH1):c.1451del (p.Asp484fs)
NM_000249.4(MLH1):c.156del (p.Glu53fs)	rs63750028
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter)	rs863225383
NM_000249.4(MLH1):c.765_766insA (p.Cys256fs)
NM_000249.4(MLH1):c.83del (p.Pro28fs)
NM_000249.4(MLH1):c.885-1G>T
NM_000251.3(MSH2):c.1213_1217dup (p.Leu407fs)
NM_000251.3(MSH2):c.1276+1G>A	rs267607950
NM_000251.3(MSH2):c.1587del (p.Glu530fs)	rs63750845
NM_000251.3(MSH2):c.1760-1G>A	rs587779110
NM_000251.3(MSH2):c.1950dup (p.Ile651fs)	rs1114167844
NM_000251.3(MSH2):c.2332del (p.Cys778fs)	rs1573574188
NM_000251.3(MSH2):c.2680dup (p.Met894fs)	rs876658211
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)	rs587779976
NM_000251.3(MSH2):c.85A>T (p.Lys29Ter)	rs1060502001
NM_000251.3(MSH2):c.940del (p.Gln314fs)
NM_000251.3(MSH2):c.942+1G>T	rs587779193
NM_000251.3(MSH2):c.942+1del	rs1194793421
NM_000251.3(MSH2):c.943-1G>T	rs12476364
NM_000251.3(MSH2):c.989dup (p.Asn331fs)	rs1114167813
NM_000535.7(PMS2):c.1119_1122del (p.Gln374fs)	rs757679199
NM_000535.7(PMS2):c.1204C>T (p.Gln402Ter)
NM_000535.7(PMS2):c.1231G>T (p.Glu411Ter)
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)	rs863224676
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
NM_000535.7(PMS2):c.1332del (p.Ser445fs)	rs1554297877
NM_000535.7(PMS2):c.13dup (p.Glu5fs)
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter)	rs876659162
NM_000535.7(PMS2):c.1778del (p.Lys593fs)	rs766389591
NM_000535.7(PMS2):c.2029G>T (p.Glu677Ter)
NM_000535.7(PMS2):c.2350del (p.Asp784fs)
NM_000535.7(PMS2):c.2445+1G>T	rs876661113
NM_000535.7(PMS2):c.304G>T (p.Glu102Ter)
NM_000535.7(PMS2):c.535A>T (p.Lys179Ter)	rs1554303861
NM_000535.7(PMS2):c.559dup (p.Val187fs)
NM_000535.7(PMS2):c.63_75del (p.Ser22fs)
NM_000535.7(PMS2):c.706-1G>T
NM_000535.7(PMS2):c.741del (p.Ser248fs)	rs1583374709
NM_000535.7(PMS2):c.802del (p.Tyr268fs)	rs267608149
NM_000535.7(PMS2):c.803+5G>A	rs939641251
NM_000535.7(PMS2):c.903G>A (p.Lys301=)	rs267608153
Single allele

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