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Table 4 Pathogenic indels in BIC, ClinVar, or SIFT indel prediction

From: New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing

Variant

rs

Type

BIC

ClinVar

SIFT

Count

 

BRCA1

c.4516delG

rs273900736

F

pathogenic

 

not-tested

4

c.5137delG

rs80357997

F

pathogenic

pathogenic

not-tested

1

c.1695insG

rs273897664

F

pathogenic

 

not-tested

1

c.340delTC

rs80357881

F

pathogenic

 

not-tested

1

c.5285insG

rs80357886

F

pathogenic

 

not-tested

1

c.4597delGA

 

F

 

pathogenic

1

c.5232del7ins12

 

F

 

pathogenic

1

c.403delA

 

F

 

pathogenic

1

c.403delAAGA

 

F

 

pathogenic

1

 

BRCA2

c.7249delCA

 

F

 

pathogenic

3

c.475 + 4delT

rs276174848

IVS

unknown

likely pathogenic

not-tested

1

c.696delT

rs80359630

F

pathogenic

 

not-tested

1

c.2808delACAA

rs80359352

F

pathogenic

 

not-tested

1

c.1318delCTTA

 

F

 

pathogenic

1

c.8840delA

 

F

 

pathogenic

1

c.8942delA

 

F

 

pathogenic

1

c.9375delC

 

F

 

pathogenic

1

  1. IVS intronic variant near splice site, F frameshift variant.