GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PMS2 R20Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
PMS2 S46Iinsufficiently evaluated pathogenicunknown

(13 web hits)

PMS2 D70Ginsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
PMS2 C73Xinsufficiently evaluated pathogenicunknown

(3 web hits)

PMS2 R134Xinsufficiently evaluated pathogenicunknown

(19 web hits)

PMS2 Y268Shiftuncertain not revieweddominant

[Note: The PMS2 gene is prone to sequencing errors in exome and whole genome sequencing.] ClinVar reports this variant causes Lynch Syndrome, which greatly increases an individual’s risk of colon cancer and other cancers. Affected individuals can be treated with more aggressive monitoring and treatment for colon cancer.

PMS2 R427Hinsufficiently evaluated not reviewedunknown
PMS2 K465Rinsufficiently evaluated not reviewed, f=0.000unknown var-GS19704-1100-36-ASM
PMS2 P470Suncertain benign, f=0.375unknown

Benign, common variant.

(4 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS000005532
hu232307 build 36 substitution variants
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
PMS2 H479Qinsufficiently evaluated not reviewed, f=0.005unknown var-GS18555-1100-36-ASM
PMS2 T485Kinsufficiently evaluated none, f=0.033unknown

(4 web hits)

CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18555-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
PMS2 T511Ainsufficiently evaluated none, f=0.021unknown

(2 web hits)

CGI sample GS01669-DNA_C05 from PGP sample 42408046
hu34D5B9 exome
var-GS06994-1100-36-ASM
PMS2 T511Minsufficiently evaluated none, f=0.027unknown var-GS18504-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19129-1100-36-ASM
PMS2 E537Kinsufficiently evaluated not reviewed, f=0.005unknown var-GS18504-1100-36-ASM
PMS2 K541Einsufficiently evaluated not reviewed, f=0.874unknown CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PMS2 R563Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_B02 from PGP sample 94378523
PMS2 Q567Rinsufficiently evaluated not reviewedunknown
PMS2 T597Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
PMS2 M622Iinsufficiently evaluated not reviewed, f=0.015unknown CGI sample GS00253-DNA_E01_200_37
PMS2 R628Xinsufficiently evaluated pathogenicunknown

(1 web hit)

PMS2 N775Sinsufficiently evaluated not reviewed, f=0.016unknown var-GS18504-1100-36-ASM (hom)
PMS2 R802Xinsufficiently evaluated pathogenicunknown

(27 web hits)

PMS2 G857Ainsufficiently evaluated not reviewedunknown hu34D5B9 exome
PMS2CL R27Delinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_A04 from PGP sample 13272228
PMS2CL K79Rinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS000006909
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
PMS2CL S108Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_A07 from PGP sample 96240009
PMS2CL G173Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F06 from PGP sample 64191565
PMS2CL T186Ainsufficiently evaluated not reviewedunknown CGI sample GS000005532
PMS2CL S187Tinsufficiently evaluated not reviewedunknown CGI sample GS000005532
PMS2L3 R23Winsufficiently evaluated noneunknown

(1 web hit)

PMS2L3 R169Winsufficiently evaluated noneunknown
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Total results: 31

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