| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|---|---|---|---|
| MSH6 G39E | insufficiently evaluated not reviewed, f=0.182 | unknown |
(108 web hits) | hu34D5B9 exome |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 | ||||
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom) | ||||
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 | ||||
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 | ||||
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 | ||||
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 | ||||
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 | ||||
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 | ||||
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom) | ||||
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 | ||||
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 | ||||
| MSH6 L396V | insufficiently evaluated none, f=0.005 | unknown |
(6 web hits) | |
| MSH6 S503C | insufficiently evaluated not reviewed | unknown | CGI sample GS01175-DNA_B05 from PGP sample 83494370 | |
| MSH6 V509A | uncertain benign, f=0.001 | undefined | Despite being predicted to have a damaging effect on a mismatch repair gene, this variant has shown no significant association with cancers (endometrial & colorectal, which are associated with mutations in this gene). It is probably benign; if it has any pathogenic effect it is weak. (8 web hits) | CGI sample GS00253-DNA_D01_200_37 |
| MSH6 V878A | uncertain benign, f=0.006 | unknown | In a screen of 288 individuals suspected of having HNPCC, Wu et al. 2001 found this variant in one individual who also had a rare MLH3 variant. The publication was mainly investigating a role for MLH3 (and not this gene), and merely refers to this variant as a MSH6 (without additional evidence). These observations match the variant’s general allele frequency: over 1% of individuals are carriers. Although this has been listed in Clinvar as pathogenic, if it caused this disease with high penetrance it would be extremely well-established (since the variant is relatively common). Since this is not the case, that hypothesis is effectively disproven. (15 web hits) | |
| MSH6 W1024X | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
| MSH6 L1036R | insufficiently evaluated not reviewed | unknown | CGI sample GS01175-DNA_G03 from PGP sample 92527586 | |
| MSH6 R1304K | insufficiently evaluated not reviewed, f=0.003 | unknown | var-GS18504-1100-36-ASM | |
| MSH6 K1358Shift | insufficiently evaluated not reviewed | unknown | CGI sample GS01175-DNA_B01 from PGP sample 86206034 | |
| Total results: 9 | ||||