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Table 2 Detection of single nucleotide variations and short indels in the BRCA1 and BRCA2 genes in familial breast cancer cases

From: Characterization of familial breast cancer in Saudi Arabia

Gene

dbSNP137

Genomic Position

AA Change

Nucleotide change

SIFT Prediction

MAF

Occurrence

BRCA1

rs799917

Chr17:41244936

p.Pro871Leu

c.2894G>A

Tolerated

0.483

4/7

 

rs4986852

Chr17:41244429

p.Ser1040Asn

c.3351 G>A

Tolerated

0.012

1/7

 

rs1799966

Chr17:41223094

p.Ser1613Gly

c.5096A>G

Damaging

0.327

3/7

 

rs16941

Chr17:41244435

p.Glu1038Gly

c.3345A>G

Damaging

0.303

3/7

 

rs1799950

Chr17:41246481

p.Gln356Arg

c.1299A>G

Damaging

0.028

1/7

 

rs16942

Chr17:41244000

p.Lys1183Arg

c.3780A>G

Tolerated

0.324

2/7

BRCA2

rs144848

Chr13:32906729

p.Asn372His

c.1341A>C

Tolerated

0.240

4/7

 

rs766173

Chr13:32906480

p.Asn289His

c.1092A>C

Damaging

0.058

1/7

 

rs169547

Chr13:32929387

p.Val2466Ala

c.7397C>T

Tolerated

0.022

5/7

 

rs80358972

Chr13:32930609

p.Arg2494Stop

c.7707C>T

NA

NA

1/7

 

rs4987117

Chr13:32914236

p.Thr1915Met

c.5971C>T

Tolerated

0.011

1/7

 

Novel

Chr13:32906700

p.Thr363fs

c.1084_1085insAC

NA

NA

1/7