GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
VPS13B W31Linsufficiently evaluated noneunknown
VPS13B E363Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
VPS13B H376Dinsufficiently evaluated not reviewedunknown
VPS13B Y413Xuncertain benignunknown

This common allele is found in the VPS13B gene, a.k.a. COH1. There are several splice variants for this gene, and the majority (which form full length proteins) treat this region as intronic. The splice variant terminates very closely downstream to this variant in the reference genome — the variant product is only three amino acids shorter. We conclude this variant is a benign polymorphism.

hu728FFF build 36 substitution variants (hom)
VPS13B Y609Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
VPS13B S750Ginsufficiently evaluated not reviewedunknown
VPS13B A829Tinsufficiently evaluated none, f=0.009unknown var-GS19648-1100-36-ASM
VPS13B P968Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18501-1100-36-ASM
VPS13B R974Tinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_D01_200_37
VPS13B Q1074Xinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
VPS13B G1127Winsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
VPS13B P1138Linsufficiently evaluated none, f=0.009unknown var-GS18517-1100-36-ASM
VPS13B H1382Qinsufficiently evaluated noneunknown
VPS13B R1416Qinsufficiently evaluated not reviewed, f=0.023unknown var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
VPS13B L1738Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
VPS13B T1921Ainsufficiently evaluated not reviewedunknown
VPS13B T1946Ainsufficiently evaluated not reviewedunknown
VPS13B G2248Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
VPS13B A2343Ginsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_C01_200_37
VPS13B R2351Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
VPS13B W2474Shiftpathogenic, f=0.008recessive

This variant is a one base deletion predicted to cause a frameshift in VPS13B. Other loss of function variants in this gene are reported to cause Cohen syndrome in a recessive manner, a rare genetic disorder causing obesity, mental retardation and craniofacial dysmorphism. This variant would be predicted to have the same effect if homozygous or compound heterozygous with another disruptive variant.

VPS13B V2559Ainsufficiently evaluated none, f=0.097unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
VPS13B E2560Kinsufficiently evaluated not reviewed, f=0.003unknown CGI sample GS00253-DNA_F01_200_37
VPS13B V2584Ainsufficiently evaluated none, f=0.109unknown var-GS19025-1100-36-ASM
var-GS19735-1100-36-ASM
hu232307 build 36 substitution variants
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
VPS13B E2585Kinsufficiently evaluated not reviewed, f=0.008unknown
VPS13B D2595Ninsufficiently evaluated not reviewed, f=0.008unknown var-GS18508-1100-36-ASM
VPS13B L2633Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
VPS13B N2968Spathogenicrecessive

According to Kolehmainen, et al 2004 this was seen homozygously in a pair of siblings from a family with Cohen syndrome, in a screen of 76 patients from 59 families.

VPS13B S3117Ginsufficiently evaluated not reviewed, f=0.004unknown CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_H01_200_37
VPS13B S3142Ginsufficiently evaluated not reviewed, f=0.023unknown
VPS13B R3198Winsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
VPS13B T3350Iinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
VPS13B N3351Iinsufficiently evaluated not reviewed, f=0.002unknown
VPS13B N3376Iinsufficiently evaluated not reviewedunknown
VPS13B K3381Tinsufficiently evaluated not reviewedunknown
VPS13B K3406Tinsufficiently evaluated not reviewedunknown
VPS13B G3407Rinsufficiently evaluated not reviewed, f=0.121unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_B04 from PGP sample 88590671
hu728FFF build 36 substitution variants
VPS13B A3412Vinsufficiently evaluated not reviewed, f=0.004unknown
VPS13B A3413Sinsufficiently evaluated noneunknown
VPS13B G3432Rinsufficiently evaluated not reviewed, f=0.117unknown hu3215A7 build 36 substitution variants (hom)
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS18508-1100-36-ASM
VPS13B A3437Vinsufficiently evaluated not reviewedunknown
VPS13B A3438Sinsufficiently evaluated none, f=0.008unknown var-GS18956-1100-36-ASM
VPS13B S3489Ginsufficiently evaluated not reviewedunknown
VPS13B S3514Ginsufficiently evaluated not reviewedunknown
VPS13B R3561Qinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_F01_200_37
VPS13B R3586Qinsufficiently evaluated not reviewed, f=0.008unknown
VPS13B A3691Tinsufficiently evaluated not reviewed, f=0.004unknown CGI sample GS00253-DNA_C01_200_37
VPS13B R3696Qinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
VPS13B A3716Tinsufficiently evaluated not reviewed, f=0.008unknown
VPS13B R3721Quncertain benign, f=0.008unknown

Tentatively evaluated as benign. Polyphen 2 predicts damaging, and other recessive variants in this gene cause Cohen syndrome, but these are almost always more severely disruptive nonsense, frameshift, or splicing mutations.

VPS13B D3746Yinsufficiently evaluated noneunknown
VPS13B D3771Yinsufficiently evaluated noneunknown
VPS13B Q3893QAQinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
VPS13B I3951Tinsufficiently evaluated none, f=0.000unknown
VPS13B I3976Tinsufficiently evaluated none, f=0.008unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
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Total results: 55

Gene search

"GENE" or "GENE A123C":

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