GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CASP8 M1Tuncertain benign, f=0.031unknown

Probably benign. Although start codons can be extremely disruptive and this gene is implicated in a rare disease (autoimmune lymphoproliferative syndrome), the allele frequency for this variant (2-3%) is high enough to contradict such a strong pathogenic effect. This may be because the gene has many other transcripts that do not include this position as exonic.

(4 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS06994-1100-36-ASM
CASP8 K14Rinsufficiently evaluated none, f=0.671unknown

(1 web hit)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
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
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909 (hom)
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
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
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
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
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
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199
CASP8 K82Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
CASP8 R248Winsufficiently evaluated pathogenicunknown

(4 web hits)

CASP8 D270Hinsufficiently evaluated noneunknown
CASP8 D285Hinsufficiently evaluated noneunknown

(2 web hits)

CASP8 D302Hinsufficiently evaluated protectiveunknown

Associated with protection against breast cancer.

(1060 web hits)

CASP8 H302Rinsufficiently evaluated not reviewedunknown
CASP8 H317Rinsufficiently evaluated not reviewedunknown
CASP8 H334Rinsufficiently evaluated not reviewedunknown
CASP8 D344Hinsufficiently evaluated none, f=0.111unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS000006909
var-GS12004-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CASP8 H376Rinsufficiently evaluated not reviewed, f=0.008unknown
CASP8AP2 R247Kinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
CASP8AP2 C270Winsufficiently evaluated not reviewedunknown
CASP8AP2 S435Finsufficiently evaluated not reviewed, f=0.002unknown var-GS19025-1100-36-ASM
CASP8AP2 M668Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19648-1100-36-ASM
CASP8AP2 S767Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19129-1100-36-ASM
CASP8AP2 R972Hinsufficiently evaluated not reviewed, f=0.001unknown var-GS18558-1100-36-ASM
CASP8AP2 D980Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
CASP8AP2 D1220Yinsufficiently evaluated not reviewed, f=0.002unknown var-GS19020-1100-36-ASM
CASP8AP2 I1239Sinsufficiently evaluated noneunknown
CASP8AP2 P1341Qinsufficiently evaluated noneunknown
CASP8AP2 P1416Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
CASP8AP2 TSLPRHG1567Hinsufficiently evaluated not reviewed, f=0.125unknown CGI sample GS000005532
var-GS19649-1100-36-ASM (hom)
var-GS20502-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
CASP8AP2 T1567Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_D03 from PGP sample 27486199
CASP8AP2 S1568Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_D03 from PGP sample 27486199
CASP8AP2 P1659Sinsufficiently evaluated none, f=0.001unknown

(4 web hits)

CGI sample GS00253-DNA_G01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CASP8AP2 D1770Ginsufficiently evaluated none, f=0.004unknown var-GS19703-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18508-1100-36-ASM
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Total results: 28

Gene search

"GENE" or "GENE A123C":

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