Chr :
chr16
Position :
23635696
Ref Allele :
T
Alt Allele :
C
AAChange refGene :
PALB2:NM_024675:exon4:c.A850G:p.T284A
UCSC :
chr16-23635696-T-C
OMIM :
PALB2
dbSNP :
-
Gene Function :
exonic
Exonic Function :
nonsynonymous SNV

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

Disease condition(s) :
Hereditary_cancer-predisposing_syndrome
Clinical significance :
Likely_benign
SIFT : Tolerated
Polyphen2 HDIV : Benign
Polyphen2 HVAR : Benign
LRT : Neutral
MutationTaster : Polymorphism
MutationAssessor : Neutral
FATHMM : Tolerated
PROVEAN : N
VEST3 score : 0.042
VEST3 rankscore : 0.022
MetaSVM : Tolerated
MetaLR : Tolerated
M-CAP : T
REVEL score : 0.003
REVEL rankscore : 0.001
MutPred score : 0.386
MutPred rankscore : 0.407
CADD : 0.001
DANN score : 0.203
DANN rankscore : 0.007
fathmm MKL coding : N
Eigen coding or noncoding : c
Eigen raw : -1.552
Eigen PC raw : -1.513
GenoCanyon score : 0.317
GenoCanyon score rankscore : 0.193
integrated fitCons score : 0.566
integrated fitCons score rankscore : 0.321
integrated confidence value : 0
GERP++ RS : -3.84
GERP++_RS rankscore : 0.04
phyloP100way vertebrate : -0.248
phyloP100way vertebrate rankscore : 0.088
phyloP20way mammalian : 0.077
phyloP20way mammalian rankscore : 0.185
phastCons100way vertebrate : 0
phastCons100way vertebrate rankscore : 0.063
phastCons20way mammalian : 0.362
phastCons20way mammalian rankscore : 0.248
SiPhy 29way logOdds : 4.825
SiPhy 29way logOdds rankscore : 0.127
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
-

If you would like to be updated on the classification of the variant as per the ACMG & AMP guidelines, please access and share the phenotypes after login.

LogIn/Register
Disclaimer:

This resource is intended for purely research purposes. It should not be used for emergencies or medical or professional advice.

This website does not provide any medical or healthcare products, services or advice, and is not for medical emergencies or urgent situations. Information contained on this website is not a substitute for a doctor's medical judgment or advice. We recommend that you discuss your specific, individual health concerns with your doctor or health care professional.
Commercial use of the resource would require licensing. For more information, contact CSIR-IGIB Business Development and Management Group at s.sivasubbu@igib.res.in