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Statistics

Key figures

Total amount of samples sequenced ? Total amount of samples sequenced under the project “Study on Hereditary Syndromes in the Russian Federation”3179
Total amount of samples in the database2426
Total number of phenotypes registered18
Total number of pathogenic mutations registered667
Total amount of variants206879

Phenotypes

Ovarian Cancer952
Breast Cancer816
Prostate Cancer200
Colorectal Cancer173
Pancreas Cancer151
Neuroendocrine Cancer90
Endometrial Cancer53
Melanoma20
Сollision Carcinoma11
Thyroid Cancer3

Mutations classification

brca182155458
brca210618194263
tp53615
pten11
atm249429
mlh1221984
msh2132362
msh627151533
epcam844
pms2152481
rad51b22
rad51c413
rad51d312
brip13111
palb2201856
chek21712545
stk113111
cdh1422
Summary:51656819157

Most frequent mutations BRCA1/2

Genomic coordinatesTranscriptKnown as Slavs 677 Tatars 544 Bashkirs 29 Chuvashs 31 All 2426
chr17:41209079 T>TGc.5266dupCBRCA1:NM_007294.3p.Q1756fs5382insC 0.04459 0.03336 0.0523 0.0161 0.038186
chr17:41243512 CT>Cc.4035delABRCA1:NM_007294.3p.E1345fs4153delA 0.00375 0.00182 00 0.0161 0.004723
chr17:41258504 A>Cc.181T>GBRCA1:NM_007294.3p.C61G300T>G
Cys61Gly 0.0034 0.00839 00 00 0.002713
chr17:41245586 CT>Cc.1961delABRCA1:NM_007294.3p.K654fs2080delA 0.00527 00 00 00 0.002311
chr17:41215382 G>Ac.5161C>TBRCA1:NM_007294.3p.Q1721X 00 0.00556 0.0342 00 0.002110
chr17:41209095 G>Ac.5251C>TBRCA1:NM_007294.3p.R1751X 0.00527 00 00 00 0.00147
chr17:41226348 C>Tc.4675G>ABRCA1:NM_007294.3p.E1559K 0.0034 0.000921 00 00 0.00147
chr17:41276044 ACT>Ac.68_69delBRCA1:NM_007294.3p.E23fs185delAG 0.0034 00 00 00 0.00126
chr13:32912240 G>GAc.3749dupABRCA2:NM_000059.3p.E1250fs 00 0.00465 00 00 0.00126
chr13:32906576 C>CAAc.961_962insAABRCA2:NM_000059.3p.Q321fs 0.000741 0.00465 0.0171 00 0.00126
chr13:32911388 ACT>Ac.2897_2898delBRCA2:NM_000059.3p.T966fs 00 0.00182 00 00 0.0015
chr17:41243843 GTTTAC>Gc.3700_3704delBRCA1:NM_007294.3p.V1234fs3819delGTAAA 0.000741 0.00283 00 00 0.0015
chr17:41223242 G>Cc.4689C>GBRCA1:NM_007294.3p.Y1563X 0.00223 00 00 00 0.000824
chr13:32950929 G>Ac.8754+1G>ABRCA2:NM_000059.3 0.00152 0.000921 00 0.0161 0.000824
chr13:32906915 AAAAG>Ac.1301_1304delBRCA2:NM_000059.3p.K434fs 0.00152 00 00 00 0.000623
chr13:32954050 G>Ac.9117G>ABRCA2:NM_000059.3p.P3039P 0.000741 0.00182 00 00 0.000623
chr13:32911297 TAAAC>Tc.2806_2809delBRCA2:NM_000059.3p.K936fs 0.00152 00 00 0.0161 0.000623
chr17:41243917 ACT>Ac.3629_3630delBRCA1:NM_007294.3p.E1210fs 00 00 00 00 0.000412
chr17:41234451 G>Ac.4327C>TBRCA1:NM_007294.3p.R1443X 0.00152 00 00 00 0.000412
chr17:41244404 AC>Ac.3143delGBRCA1:NM_007294.3p.G1048fs 0.000741 0.000921 00 00 0.000412
chr17:41215969 C>Tc.5075-1G>ABRCA1:NM_007294.3 0.00152 00 00 00 0.000412
chr13:32921034 G>Ac.7007+1G>ABRCA2:NM_000059.3 00 0.00182 00 00 0.000412
chr17:41243788 TAGAC>Tc.3756_3759delBRCA1:NM_007294.3p.L1252fs3875delGTCT 0.000741 00 00 00 0.000211
chr13:32914437 GT>Gc.5946delTBRCA2:NM_000059.3p.S1982fs6174delT
BRCA2 00 00 00 00 0.000211