GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MSH6 G39Einsufficiently evaluated not reviewed, f=0.182unknown

(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 L396Vinsufficiently evaluated none, f=0.005unknown

(6 web hits)

MSH6 S503Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
MSH6 V509Auncertain benign, f=0.001undefined

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 V878Auncertain benign, f=0.006unknown

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 W1024Xinsufficiently evaluated pathogenicunknown

(2 web hits)

MSH6 L1036Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
MSH6 R1304Kinsufficiently evaluated not reviewed, f=0.003unknown var-GS18504-1100-36-ASM
MSH6 K1358Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
Total results: 9

Gene search

"GENE" or "GENE A123C":

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