GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ERCC2 R112Hinsufficiently evaluated pathogenicunknown

(15 web hits)

ERCC2 K181Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
ERCC2 D288Ninsufficiently evaluated noneunknown
ERCC2 D312Ninsufficiently evaluated none, f=0.235unknown

(137 web hits)

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 (hom)
var-GS19025-1100-36-ASM
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18504-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS18947-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ERCC2 L461Vuncertain benign, f=0.000undefined

Reported to cause Xeroderma Pigmentosum (XP) and Photosensitive Trichothiodystrophy (TTD) in a recessive manner. These effects are recorded in ClinVar by OMIM and come, respectively, from Frederick et al 1994 (PMID: 7849702), and Takayama et al 1996 & Takayama et al 1997 (PMID: 8571952 & PMID: 9195225). Notably, the latter papers implicated this variant only in combination with a 15 amino acid deletion on the same chromosome (expected to have a more severe effect – so this variant may have been coincidental and not causal). In ExAC data this variant has an allele frequency of 0.7% in South Asian ancestry, which means at least 1 in 20,000 with South Asian ancestry are expected to be homozygous. In contrast, XP and TTD are both much rarer, with incidences of 1 inn 250,000 to 1,000,000. This information, combined with a lack of more recent confirming literature, indicates the reported effects should probably be considered disproven.

(18 web hits)

ERCC2 L485Pinsufficiently evaluated pathogenicunknown

(4 web hits)

ERCC2 S541Rinsufficiently evaluated pathogenicunknown

(6 web hits)

ERCC2 R616Winsufficiently evaluated pathogenic, f=0.000unknown

(9 web hits)

ERCC2 R658Cinsufficiently evaluated pathogenicunknown

(16 web hits)

ERCC2 R666Winsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
ERCC2 D681Ninsufficiently evaluated pathogenicunknown

(16 web hits)

ERCC2 R683Winsufficiently evaluated pathogenic, f=0.000unknown

(39 web hits)

ERCC2 G713Rinsufficiently evaluated pathogenicunknown

(7 web hits)

ERCC2 R722Winsufficiently evaluated pathogenic, f=0.000unknown

(33 web hits)

ERCC2 A725Pinsufficiently evaluated pathogenicunknown

(2 web hits)

ERCC2 Q726Xinsufficiently evaluated pathogenicunknown
ERCC2 K751Qinsufficiently evaluated pharmacogenetic, f=0.319unknown

Increased risk of early relapse in Asian patients with fluoruracil or leucovorin.

(219 web hits)

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 (hom)
var-GS19025-1100-36-ASM
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18504-1100-36-ASM (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18502-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS18947-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
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_B07 from PGP sample 61499538
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
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Total results: 17

Gene search

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