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Gene Symbol | MSH6 | ||||||||||
Synonyms | GTBP | GTMBP | HNPCC5 | HSAP | LYNCH5 | MMRCS3 | MSH-6 | p160 | ||||||||||
Gene Description | MSH6, mutS homolog 6, binds with Msh2 to form the MutS-alpha complex, which functions in initiation of the DNA mismatch repair system (PMID: 23391514) and is associated with microsatellite instability (MSI) (PMID: 30121009). Mutations in MSH6 are associated with susceptibility to colon cancer and endometrial cancer (PMID: 20028993), and germline MSH6 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome (PMID: 15528792). | ||||||||||
ACMG Incidental List v3.0: |
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Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
MSH6 A1021D | unknown | |
MSH6 A1055P | loss of function - predicted | |
MSH6 A1064T | unknown | |
MSH6 A1204E | unknown | |
MSH6 A1204P | unknown | |
MSH6 A1320Sfs*5 | unknown | |
MSH6 F1088Lfs*5 MSH6 Y1256* MSH6 A1320Sfs*5 | ||
MSH6 A175T | unknown | |
MSH6 A175V | unknown | |
MSH6 A20V | unknown | |
MSH6 A25S | no effect | |
MSH6 A297T | unknown | |
MSH6 A322V | unknown | |
MSH6 A326V | unknown | |
MSH6 A339D | unknown | |
MSH6 A457D | unknown | |
MSH6 A457V | unknown | |
MSH6 A587P | loss of function | |
MSH6 A64V | unknown | |
MSH6 A81T | unknown | |
MSH6 amp | no effect | |
MSH6 C1165R | loss of function - predicted | |
MSH6 C496Y | unknown | |
MSH6 C615F | unknown | |
MSH6 C694R | loss of function - predicted | |
MSH6 C88W | unknown | |
MSH6 D1026Y | unknown | |
MSH6 D1171fs | loss of function - predicted | |
MSH6 D1213E | loss of function - predicted | |
MSH6 D1213G | loss of function - predicted | |
MSH6 D197H | unknown | |
MSH6 D358E | unknown | |
MSH6 D358N | unknown | |
MSH6 D390N | unknown | |
MSH6 D422G | unknown | |
MSH6 D530Y | unknown | |
MSH6 D667V | unknown | |
MSH6 D803G | loss of function - predicted | |
MSH6 D89E | unknown | |
MSH6 E1163V | unknown | |
MSH6 E1193K | loss of function | |
MSH6 E1196* | unknown | |
MSH6 E1214* | unknown | |
MSH6 E1234* | unknown | |
MSH6 E1254del | unknown | |
MSH6 E1322* | unknown | |
MSH6 E1322K | unknown | |
MSH6 E171Q | unknown | |
MSH6 E181A | unknown | |
MSH6 E220D | unknown | |
MSH6 E221D | unknown | |
MSH6 E224* | loss of function - predicted | |
MSH6 E286K | unknown | |
MSH6 E463* | loss of function - predicted | |
MSH6 E484K | unknown | |
MSH6 E544D | unknown | |
MSH6 E544fs | loss of function - predicted | |
MSH6 E597Q | unknown | |
MSH6 E604* | loss of function - predicted | |
MSH6 E619* | loss of function - predicted | |
MSH6 E641* | loss of function - predicted | |
MSH6 E908* | loss of function - predicted | |
MSH6 E946* | loss of function - predicted | |
MSH6 E946D | unknown | |
MSH6 E956D | unknown | |
MSH6 E983Q | unknown | |
MSH6 E993K | unknown | |
MSH6 F1088fs | unknown | |
MSH6 F1088fs MSH6 I1283fs | ||
MSH6 F1088Lfs*5 | unknown | |
MSH6 F1088Sfs*2 | unknown | |
MSH6 F1103L | unknown | |
MSH6 F340S | unknown | |
MSH6 F432L | loss of function - predicted | |
MSH6 F432S | loss of function - predicted | |
MSH6 F573fs | loss of function - predicted | |
MSH6 F689L | unknown | |
MSH6 F689V | unknown | |
MSH6 F706S | loss of function - predicted | |
MSH6 G1072C | unknown | |
MSH6 G1105Wfs*3 | unknown | |
MSH6 G1139Afs*6 | unknown | |
MSH6 G1139D | loss of function - predicted | |
MSH6 G1139S | loss of function | |
MSH6 G1157D | loss of function - predicted | |
MSH6 G1157S | loss of function - predicted | |
MSH6 G1299C | unknown | |
MSH6 G1299D | unknown | |
MSH6 G1316R | unknown | |
MSH6 G141D | unknown | |
MSH6 G289D | unknown | |
MSH6 G39E | unknown | |
MSH6 G39W | unknown | |
MSH6 G467D | unknown | |
MSH6 G520D | loss of function - predicted | |
MSH6 G520V | loss of function - predicted | |
MSH6 G529C | unknown | |
MSH6 G557D | loss of function - predicted | |
MSH6 G566R | loss of function | |
MSH6 G624S | unknown | |
MSH6 G670R | unknown | |
MSH6 G686D | loss of function - predicted | |
MSH6 G881delinsKS | no effect - predicted | |
MSH6 G93E | unknown | |
MSH6 H1248D | loss of function | |
MSH6 H1248R | unknown | |
MSH6 H367R | loss of function - predicted | |
MSH6 H437R | loss of function - predicted | |
MSH6 H458Y | loss of function - predicted | |
MSH6 hypermethylation | unknown | |
MSH6 I1054F | unknown | |
MSH6 I1109fs | loss of function - predicted | |
MSH6 I1113S | loss of function - predicted | |
MSH6 I1183K | unknown | |
MSH6 I1183T | unknown | |
MSH6 I1283fs | unknown | |
MSH6 I1357N | unknown | |
MSH6 I258T | unknown | |
MSH6 I425T | unknown | |
MSH6 I516N | loss of function - predicted | |
MSH6 I516Sfs*55 | loss of function - predicted | |
MSH6 I872fs | loss of function - predicted | |
MSH6 I944V | unknown | |
MSH6 I967K | loss of function - predicted | |
MSH6 inact mut | loss of function | |
MSH6 K1009I | unknown | |
MSH6 K1013N | unknown | |
MSH6 K1014del | unknown | |
MSH6 K1101N | unknown | |
MSH6 K125* | loss of function - predicted | |
MSH6 K125fs | loss of function - predicted | |
MSH6 K1358Dfs*2 | unknown | |
MSH6 K1358fs | unknown | |
MSH6 K13T | unknown | |
MSH6 K155R | unknown | |
MSH6 K185T | unknown | |
MSH6 K234fs | loss of function - predicted | |
MSH6 K295R | unknown | |
MSH6 K324R | unknown | |
MSH6 K417E | unknown | |
MSH6 K428T | unknown | |
MSH6 K431T | unknown | |
MSH6 K610N | unknown | |
MSH6 K646R | unknown | |
MSH6 K692N | unknown | |
MSH6 K693fs | loss of function - predicted | |
MSH6 K728T | no effect - predicted | |
MSH6 K854M | unknown | |
MSH6 K885N | unknown | |
MSH6 K99N | unknown | |
MSH6 L1063R | loss of function - predicted | |
MSH6 L1143P | loss of function - predicted | |
MSH6 L1167P | loss of function - predicted | |
MSH6 L1211P | loss of function - predicted | |
MSH6 L1354Q | no effect - predicted | |
MSH6 L290* | loss of function - predicted | |
MSH6 L373P | unknown | |
MSH6 L396V | unknown | |
MSH6 L403I | unknown | |
MSH6 L423I | unknown | |
MSH6 L435P | loss of function - predicted | |
MSH6 L449P | loss of function - predicted | |
MSH6 L585P | loss of function - predicted | |
MSH6 L634fs | loss of function - predicted | |
MSH6 L637P | loss of function - predicted | |
MSH6 L681F | unknown | |
MSH6 L773P | loss of function - predicted | |
MSH6 L821P | loss of function - predicted | |
MSH6 L893Q | unknown | |
MSH6 L979V | unknown | |
MSH6 loss | loss of function | |
MSH6 M1137K | loss of function - predicted | |
MSH6 M1156K | unknown | |
MSH6 M452V | unknown | |
MSH6 M492V | unknown | |
MSH6 M868I | unknown | |
MSH6 M868T | unknown | |
MSH6 mutant | unknown | |
MSH6 N1136K | loss of function - predicted | |
MSH6 N897H | unknown | |
MSH6 N960T | unknown | |
MSH6 negative | loss of function | PD-L1/PD-1 antibody Ipilimumab + Nivolumab |
BRAF mut MSH6 neg | ||
MSH6 P1073S | unknown | |
MSH6 P1077S | unknown | |
MSH6 P1082L | unknown | |
MSH6 P1082S | unknown | |
MSH6 P1087R | no effect | |
MSH6 P1087S | unknown | |
MSH6 P1087T | no effect | |
MSH6 P1097S | unknown | |
MSH6 P233S | unknown | |
MSH6 P591Q | unknown | |
MSH6 P623A | unknown | |
MSH6 P623L | no effect - predicted | |
MSH6 P768H | unknown | |
MSH6 P781T | unknown | |
MSH6 P982A | unknown | |
MSH6 positive | unknown | |
MSH6 Q485K | unknown | |
MSH6 Q485R | unknown | |
MSH6 Q522R | unknown | |
MSH6 Q618* | loss of function - predicted | |
MSH6 Q698E | unknown | |
MSH6 Q776H | unknown | |
MSH6 R1024W | unknown | |
MSH6 R1034Q | unknown | |
MSH6 R1076C | unknown | |
MSH6 R1076H | unknown | |
MSH6 R1095C | unknown | |
MSH6 R1095H | no effect | |
MSH6 R128H | unknown | |
MSH6 R128L | no effect - predicted | |
MSH6 R1304K | no effect - predicted | |
MSH6 R1331* | unknown | |
MSH6 R1331P | unknown | |
MSH6 R1331Q | unknown | |
MSH6 R1334Q | loss of function | |
MSH6 R1334W | unknown | |
MSH6 R178H | unknown | |
MSH6 R240* | loss of function - predicted | |
MSH6 R361H | unknown | |
MSH6 R383G | unknown | |
MSH6 R468H | no effect - predicted | |
MSH6 R482Q | unknown | |
MSH6 R495* | loss of function - predicted | |
MSH6 R511G | loss of function - predicted | |
MSH6 R577H | unknown | |
MSH6 R644S | unknown | |
MSH6 R761M | unknown | |
MSH6 R772W | loss of function | |
MSH6 R791C | unknown | |
MSH6 R791H | unknown | |
MSH6 R922* | loss of function - predicted | |
MSH6 R922Q | no effect - predicted | |
MSH6 R959H | unknown | |
MSH6 R961I | unknown | |
MSH6 R976H | unknown | |
MSH6 S1028L | unknown | |
MSH6 S1049F | unknown | |
MSH6 S1067I | unknown | |
MSH6 S1188N | loss of function - predicted | |
MSH6 S1208F | unknown | |
MSH6 S1279N | unknown | |
MSH6 S1329L | unknown | |
MSH6 S1340G | unknown | |
MSH6 S144I | no effect | |
MSH6 S2* | loss of function - predicted | |
MSH6 S227I | unknown | |
MSH6 S285I | unknown | |
MSH6 S314I | unknown | |
MSH6 S315F | unknown | |
MSH6 S321* | loss of function - predicted | |
MSH6 S341A | unknown | |
MSH6 S360I | unknown | |
MSH6 S394A | unknown | |
MSH6 S41C | unknown | |
MSH6 S503C | unknown | |
MSH6 S580L | loss of function - predicted | |
MSH6 S631F | unknown | |
MSH6 S65L | unknown | |
MSH6 S666P | unknown | |
MSH6 S668C | unknown | |
MSH6 S677I | unknown | |
MSH6 S677T | no effect - predicted | |
MSH6 S702* | loss of function - predicted | |
MSH6 S884T | loss of function - predicted | |
MSH6 S950I | unknown | |
MSH6 T1008I | loss of function - predicted | |
MSH6 T1010A | unknown | |
MSH6 T1085fs | unknown | |
MSH6 T1142M | unknown | |
MSH6 T1189I | unknown | |
MSH6 T1205I | unknown | |
MSH6 T1219D | loss of function | |
MSH6 T1219I | loss of function | |
MSH6 T1225M | unknown | |
MSH6 T1238A | unknown | |
MSH6 T1247S | unknown | |
MSH6 T1284M | unknown | |
MSH6 T269S | unknown | |
MSH6 T521K | loss of function - predicted | |
MSH6 T750P | unknown | |
MSH6 T757I | unknown | |
MSH6 T767I | loss of function - predicted | |
MSH6 V1056M | unknown | |
MSH6 V1350A | unknown | |
MSH6 V304A | unknown | |
MSH6 V398E | loss of function - predicted | |
MSH6 V424G | loss of function - predicted | |
MSH6 V450A | unknown | |
MSH6 V480E | loss of function - predicted | |
MSH6 V480L | unknown | |
MSH6 V508E | loss of function - predicted | |
MSH6 V509A | no effect - predicted | |
MSH6 V509E | loss of function - predicted | |
MSH6 V688D | loss of function - predicted | |
MSH6 V800L | unknown | |
MSH6 V878A | unknown | |
MSH6 W1047* | loss of function - predicted | |
MSH6 W142* | loss of function - predicted | |
MSH6 W372R | loss of function - predicted | |
MSH6 W413R | loss of function - predicted | |
MSH6 W628* | loss of function - predicted | |
MSH6 W777* | loss of function - predicted | |
MSH6 W912R | unknown | |
MSH6 Y1006* | loss of function - predicted | |
MSH6 Y1006N | loss of function - predicted | |
MSH6 Y1044* | loss of function - predicted | |
MSH6 Y1066Wfs*21 | loss of function - predicted | |
MSH6 Y1256* | unknown | |
MSH6 Y397fs | loss of function - predicted | |
MSH6 Y397H | unknown | |
MSH6 Y556F | no effect - predicted | |
MSH6 Y850* | loss of function - predicted | |
MSH6 Y850C | unknown |