Skip to main content

Table 2 Evolutionary origin of the BRCA PVs in Portuguese

From: Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health

cDNA

Protein

Type

Location

Time (BP)a

BRCA1

 c.181T>G

p.(Cys61Gly)

nonsynonymous SNV

Russia

37470

 c.1058G>A

p.(Trp353a)

stopgain

Shamanka II, Russia

3818

 c.3817C>T

p.(Gln1273a)

stopgain

Czech Republic

NA

BRCA2

 c.9004G>A

p.(Glu3002Lys)

nonsynonymous SNV

Kyordyughen, Russia

4603

 c.7975A>G

p.(Arg2659Gly)

nonsynonymous SNV

Budakalász-Luppa csárda, Hungary

5257

 c.8488-1G>A

p.(=)

.

Uybat V, Russia

4329

 c.9382C>T

p.(Arg3128a)

stopgain

Nesterivka, Ukrayina

8610

 c.7007G>A

p.(Arg2336His)

nonsynonymous SNV

Shamanka II, Russia

6386

  1. abefore present