Chr :
chr1
Position :
85267841
Ref Allele :
G
Alt Allele :
A
AAChange refGene :
BCL10:NM_001320715:exon3:c.C455T:p.T152M,BCL10:NM_003921:exon3:c.C488T:p.T163M
UCSC :
chr1-85267841-G-A
OMIM :
BCL10
dbSNP :
rs370432633
Gene Function :
exonic
Exonic Function :
nonsynonymous SNV

Clinical annotations are based on clinvar version 2019-03-05.

Disease condition(s) :
Malignant_tumor_of_testis
Clinical significance :
Pathogenic
SIFT : Deleterious
Polyphen2 HDIV : Benign
Polyphen2 HVAR : Benign
LRT : Deleterious
MutationTaster : Polymorphism
MutationAssessor : Neutral
FATHMM : -
PROVEAN : N
VEST3 score : 0.154
VEST3 rankscore : 0.188
MetaSVM : Tolerated
MetaLR : Tolerated
M-CAP : T
REVEL score : 0.297
REVEL rankscore : 0.621
MutPred score : -
MutPred rankscore : -
CADD : 14.81
DANN score : 0.933
DANN rankscore : 0.224
fathmm MKL coding : D
Eigen coding or noncoding : c
Eigen raw : -0.323
Eigen PC raw : -0.171
GenoCanyon score : 1
GenoCanyon score rankscore : 0.747
integrated fitCons score : 0.722
integrated fitCons score rankscore : 0.854
integrated confidence value : 0
GERP++ RS : 5.08
GERP++_RS rankscore : 0.682
phyloP100way vertebrate : 4.861
phyloP100way vertebrate rankscore : 0.624
phyloP20way mammalian : 0.998
phyloP20way mammalian rankscore : 0.613
phastCons100way vertebrate : 0.991
phastCons100way vertebrate rankscore : 0.37
phastCons20way mammalian : 0.081
phastCons20way mammalian rankscore : 0.181
SiPhy 29way logOdds : 15.126
SiPhy 29way logOdds rankscore : 0.72
IndiGen Frequencies
  • Allele Count :    1
  • Allele Frequency :    0.0005
  • Allele Number :    2048
  • Homozygous :    0
  • Heterozygous :    1
1000 Genome
All AFR AMR EAS SAS EUR
- - - - - -
gnomAD
All AFR AMR EAS SAS AMI ASJ FIN NFE OTH
- - - - - - - - - -
GME
All NWA NEA AP Israel SD TP CA
- - - - - - - -
Esp6500
All
7.7E-5

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