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Table 2 Germline mutations identified in the family

From: Genome instability in blood cells of a BRCA1 + breast cancer family

Gene Position Base change AA change Type SIFT PolyPhen 2 Frequency
      Score Prediction Score Prediction  
SRA1 chr5:139936828 c.C91T p.P31S SNV 0.00 D 1.00 D 6
PHKG2* chr16:30767746 c.C706T p.R236W SNV 0.00 D 1.00 D 5
ZNF24 chr18:32919897 c.T464G p.M155R SNV 0.02 D 0.00 B 4
TMPRSS7 chr3:111797705 c.G1963A p.G655S SNV 0.00 D 1.00 D 4
ABLIM2 chr4:8055946 c.G791A p.R264Q SNV 0.05 D 1.00 D 3
FOXP1 chr3:71247489 c.C44T p.A15V SNV 0.34 T 0.98 D 3
GSTK1 chr7:142964824 c.G703A p.G235R SNV 0.02 D 1.00 D 3
LACRT chr12:55028594 c.C32T p.A11V SNV 0.00 D 0.99 D 3
PAMR1 chr11:35456266 c.G1420A p.G474R SNV 0.00 D 1.00 D 3
TTN chr2:179400887 c.G73392A p.W24464X Stop gain NA NA NA NA 3
UEVLD chr11:18553971 c.G1312T p.V438L SNV 0.37 T 0.96 D 2
ITGA1 chr5:52240783 c.C3296G p.S1099C SNV 0.01 D 1.00 D 2
BPTF chr17:65850386 c.A944C p.N315T SNV 0.00 D 1.00 D 1
CACNB3 chr12:49220218 c.G688A p.A230T SNV 0.01 D 1.00 D 1
CUL4B chrX:119680410 c.A838T p.R280X Stop gain NA NA NA NA 1
SEMA3C chr7:80374250 c.G2216A p.R739Q SNV 0.01 D 0.99 D 1
TBC1D22B chr6:37280778 c.G1067A p.S356N SNV 0.03 D 0.39 B 1
CHCHD1 chr10:75541868 c.G35T p.R12L SNV 0.01 D 0.99 D 1
KCTD8* chr4:44177010 c.C1219T p.R407C SNV 0.00 D 1.00 D 1
CLCN4 chrX:10176455 c.G1214A p.C405Y SNV 0.00 D 0.98 D 1
LAT chr16:29000901 c.G634T p.A212S SNV 0.02 D 1.00 D 1
ZNF304 chr19:57868409 c.A1172T p.Y391F SNV 0.16 T 1.00 D 1
ZNF674 chrX:46359537 c.C1487A p.P496H SNV 0.00 D 1.00 D 1
  1. *Two mutations exist in ESP 6500 with MAF 0.000077, all others are novel mutations only detected in this family.
  2. D: probably damaging; P: possibly damaging; B: benign; T: tolerant.