GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ERCC6 C61Shiftpathogenicrecessive

Predicts a severely disruptive frameshift in the ERCC6 gene, also known as CSB. No known reports exist for this variant, other disruptive variants are reported to cause Cockayne Syndrome B in a recessive manner. This severe disease is characterized by poor growth, progressive neurological dysfunction, and (in most cases) photosensitivity. Notably, there is also a report of a patient homozygous for a very disruptive variant early in the protein (R77X) who did not have Cockayne Syndrome, only a syndrome of UV-sensitivity (see Horibata 2004).

ERCC6 R77Xinsufficiently evaluated pathogenicunknown

(2 web hits)

ERCC6 H78Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
ERCC6 I188Shiftuncertain not reviewed, f=0.008unknown

Predicts a severely disruptive frameshift in the ERCC6 gene, also known as CSB. No known reports exist for this variant, other disruptive variants are reported to cause Cockayne Syndrome B in a recessive manner. This severe disease is characterized by poor growth, progressive neurological dysfunction, and (in most cases) photosensitivity. Notably, there is also a report of a patient homozygous for a very disruptive variant early in the protein (R77X) who did not have Cockayne Syndrome, only a syndrome of UV-sensitivity (see Horibata 2004).

var-GS06985-1100-36-ASM
ERCC6 E382Ginsufficiently evaluated none, f=0.001unknown var-GS19129-1100-36-ASM
ERCC6 G399Dinsufficiently evaluated none, f=0.161unknown

(28 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
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 GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS06985-1100-36-ASM
ERCC6 G446Dinsufficiently evaluated none, f=0.009unknown

(1 web hit)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu3215A7 build 36 substitution variants
var-GS06994-1100-36-ASM
CGI sample GS01173-DNA_B07 from PGP sample 61499538
ERCC6 R453Xinsufficiently evaluated pathogenicunknown

(2 web hits)

ERCC6 W517Xinsufficiently evaluated pathogenicunknown

(2 web hits)

ERCC6 R683Qinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
ERCC6 R683Xinsufficiently evaluated pathogenicunknown

(2 web hits)

ERCC6 T699Minsufficiently evaluated not reviewed, f=0.002unknown

(1 web hit)

ERCC6 A731Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
ERCC6 R735Xinsufficiently evaluated pathogenic, f=0.000unknown

(3 web hits)

ERCC6 T942Minsufficiently evaluated not reviewed, f=0.018unknown var-GS19017-1100-36-ASM
var-GS18508-1100-36-ASM
ERCC6 L987Pinsufficiently evaluated pathogenicunknown

(2 web hits)

ERCC6 P1095Rinsufficiently evaluated pathogenic, f=0.013recessive

This variant is implicated in causing Cockayne Syndrome in a recessive manner. Although other variants in this gene cause this disease, the only observations supporting this variant is its presence in a single case: a black patient compound heterozygous with a frameshift mutation (and an irrelevant stop codon mutation) on the other allele.

(4 web hits)

var-GS18502-1100-36-ASM
var-GS19238-1100-36-ASM
ERCC6 M1097Vinsufficiently evaluated none, f=0.190unknown

(38 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
CGI sample GS000006909
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19834-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
var-GS19670-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
ERCC6 R1213Guncertain pathogenic, f=0.197recessive

When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study.

(20 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS000006909
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19834-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
var-GS19670-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
ERCC6 R1213Iinsufficiently evaluated not reviewedunknown
ERCC6 F1217Cinsufficiently evaluated not reviewed, f=0.001unknown var-GS19648-1100-36-ASM
ERCC6 R1230Puncertain benign, f=0.070unknown

Probably benign.

CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS18947-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS06985-1100-36-ASM
ERCC6 V1262Minsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
ERCC6 V1308Linsufficiently evaluated not reviewed, f=0.009unknown hu728FFF build 36 substitution variants
ERCC6 G1372Rinsufficiently evaluated none, f=0.004unknown var-GS19129-1100-36-ASM
ERCC6 G1410Rinsufficiently evaluated not reviewed, f=0.000unknown var-GS19017-1100-36-ASM
ERCC6 Q1413Rinsufficiently evaluated none, f=0.189unknown

(15 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
CGI sample GS000006909
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19834-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
var-GS19670-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
ERCC6 T1441Iinsufficiently evaluated not reviewed, f=0.026unknown var-GS19025-1100-36-ASM
ERCC6L N189Sinsufficiently evaluated not reviewed, f=0.021unknown var-GS18508-1100-36-ASM
ERCC6L S759Ninsufficiently evaluated not reviewed, f=0.034unknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
ERCC6L A812Tinsufficiently evaluated not reviewed, f=0.011unknown var-GS18940-1100-36-ASM (hom)
ERCC6L P1071Qinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
ERCC6L E1128Kinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F06 from PGP sample 64191565
ERCC6L G1148Rinsufficiently evaluated none, f=0.000unknown
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Total results: 34

Gene search

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