CIViC ID: 3532 · Entrez: 4292
Aliases: COCA2,FCC2,HNPCC,HNPCC2,hMLH1,MLH1,MMRCS1,MLH-1,LYNCH2
MLH1 is a tumor suppressor gene involved in DNA mismatch repair. Germline mutations in this gene are known to cause Lynch syndrome. The most common malignancies in Lynch syndrome are colorectal and endometrial carcinomas. In addition to germline mutations, somatic mutations in this gene have been described in colorectal and endometrial cancers.
Cyan = gene · Slate = variant · Green = drug · Click variant to filter table
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 748 | *757L X757L | ENST00000231790.2:c.2270A>T,NC_000003.11:g.37092143A>T | stop_lost |
| 752 | A424T ALA424THR,RS377433038 | NM_000249.3:c.1270G>A,NP_000240.1:p.Ala424Thr,ENST00000231790.2:c.1270G>A,NC_000003.11:g.37067359G>A | missense_variant |
| 760 | A681V ALA681VAL,A440V,RS63750864 | NM_000249.3:c.2042C>T,NP_000240.1:p.Ala681Val,ENST00000231790.2:c.2042C>T,NC_000003.11:g.37090447C>T | missense_variant |
| 746 | D667FS ASP667FS | NC_000003.11:g.37090406del,ENST00000231790.2:c.2001del | frameshift_truncation |
| 725 | E13fs GLU13ARGFS,RS63750081,E13FS*3 | NM_000249.3:c.37delG,NP_000240.1:p.Glu13Argfs,ENST00000231790.2:c.37delG,NC_000003.11:g.37035075del | frameshift_truncation,minus_1_frameshift_variant |
| 662 | EXPRESSION | ||
| 730 | G606FS*2 GLY606FS | ENST00000231790.2:c.1816_1817delGG,NC_000003.11:g.37089094_37089095del | frameshift_truncation |
| 759 | G65D GLY65ASP,RS63751465 | NM_000249.3:c.194G>A,NP_000240.1:p.Gly65Asp,ENST00000231790.2:c.194G>A,NC_000003.11:g.37038187G>A | missense_variant |
| 757 | G67R GLY67ARG,RS63750206 | NC_000003.11:g.37038192G>A,NP_000240.1:p.Gly67Arg,ENST00000231790.2:c.199G>A,NM_000249.3:c.199G>A | missense_variant |
| 758 | I68S ILE68SER | ENST00000231790.2:c.203T>G,NC_000003.11:g.37038196T>G | missense_variant |
| 733 | K618DEL RS63751247,LYS618DEL | NC_000003.11:g.37089130_37089132del,ENST00000231790.2:c.1852_1854delAAG,NM_000249.3:c.1852_1854delAAG,NP_000240.1:p.Lys618del | inframe_deletion |
| 4641 | Loss | ||
| 747 | M1L MET1LEU | NC_000003.11:g.37035039A>T,ENST00000231790.2:c.1A>T | missense_variant |
| 769 | M490T MET490THR | ENST00000231790.2:c.1469T>C,NC_000003.11:g.37070334T>C | missense_variant |
| 538 | METHYLATION | ||
| 751 | N551T ASN551THR,RS63750271 | NM_000249.3:c.1652A>C,NP_000240.1:p.Asn551Thr,ENST00000231790.2:c.1652A>C,NC_000003.11:g.37081770A>C | missense_variant |
| 756 | P536FS PRO536FS | NC_000003.11:g.37081726del,ENST00000231790.2:c.1608del | frameshift_truncation |
| 753 | Q149* Q149X,GLN149TER,RS63751302 | NM_000249.3:c.445C>T,NP_000240.1:p.Gln149Ter,ENST00000231790.2:c.445C>T,NC_000003.11:g.37048546C>T | stop_gained |
| 744 | Q426FS GLN426FS | ENST00000231790.2:c.1276delC,NC_000003.11:g.37067365del | frameshift_truncation |
| 741 | R100* ARG100TER,R100X,RS63751221 | NM_000249.3:c.298C>T,NP_000240.1:p.Arg100Ter,ENST00000231790.2:c.298C>T,NC_000003.11:g.37042536C>T | stop_gained |
| 754 | R226* R226X,ARG226TER,R128*,RS63751615 | NM_000249.3:c.676C>T,NP_000240.1:p.Arg226Ter,ENST00000231790.2:c.676C>T,NC_000003.11:g.37053589C>T | stop_gained |
| 749 | R265G ARG265GLY | ENST00000231790.2:c.793C>G,NC_000003.11:g.37058999C>G | missense_variant |
| 735 | R687FS ARG687GLYFS,RS863225381 | NM_000249.3:c.2059delC,NP_000240.1:p.Arg687Glyfs,ENST00000231790.2:c.2059delC,NC_000003.11:g.37090464del | frameshift_variant |
| 743 | T117M THR117MET,RS63750781 | NM_000249.3:c.350C>T,NP_000240.1:p.Thr117Met,ENST00000231790.2:c.350C>T,NC_000003.11:g.37045935C>T | missense_variant |
| 750 | V213FS VAL213FS | ENST00000231790.2:c.638delT,NC_000003.11:g.37053551del | frameshift_truncation |
| 745 | V49A VAL49ALA | ENST00000231790.2:c.146T>C,NC_000003.11:g.37038139T>C | missense_variant |
| 728 | V534R VAL534ARG | ENST00000231790.2:c.1600_1601delinsAG,NC_000003.11:g.37081718_37081719delinsAG | missense_variant |
| 731 | c.790+1G>A RS267607789 | NM_000249.3:c.790+1G>A,NC_000003.11:g.37056036G>A,ENST00000231790.2:c.790+1G>A | splice_donor_variant |