GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ELAC2 A12Vinsufficiently evaluated not reviewedunknown
ELAC2 S217Luncertain pathogenic, f=0.273other

Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.‘s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total).

(50 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
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 GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
ELAC2 D351Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19648-1100-36-ASM
ELAC2 SR352RKinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_H01_200_37
ELAC2 A501Tinsufficiently evaluated not reviewedunknown
ELAC2 A540Tinsufficiently evaluated not reviewedunknown
ELAC2 A541Tuncertain pathogenic, f=0.028unknown

This variant is implicated as causing increased susceptibility to prostate cancer. However the variant has always been seen paired with S217L, it is unclear which variant is causal. Evidence is weak for both; one meta-analysis (Severi et al.) concluded that neither variant was pathogenic, a more recent meta-analysis (Xu et al.) found the data to be significant but the odds ratio was not strong and concluded they are “low-penetrance susceptibility markers of prostate cancer”.

(33 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS07357-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
ELAC2 E622Vinsufficiently evaluated pathogenic, f=0.000unknown

(12 web hits)

ELAC2 R781Hinsufficiently evaluated pathogenic, f=0.001unknown

(10 web hits)

ELAC2 PQ808RPinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01173-DNA_H06 from PGP sample 91708424
ELAC2 P808Ainsufficiently evaluated not reviewed, f=0.062unknown 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
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
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Total results: 11

Gene search

"GENE" or "GENE A123C":

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