Skip to main content

Table 3 List of non-pathogenic BRCA1 and BRCA2 genes variants found in Mauritanian hereditary BC patients

From: Screening of BRCA1/2 variants in Mauritanian breast cancer patients

Gene

Chromosome position

Mutation type

Database ID

Gene location

nucleotide change

protein change

Clinicalsignificance

Number of carriers

BRCA2

chr13:32893271–32,893,271

Missense

rs4987046

Exon 3

c.125A > G

p.Tyr42Cys

benign

1

BRCA2

chr13:32972897–32,972,897

Missense

Unreported

Exon 3

c.10247A > G

p.Lys3416Arg

benign

1

BRCA1

chr17:41246481–41,246,481

Missense

rs1799950

Exon 9

c.1067A > G

p.Gln356Arg

benign

1

BRCA1

chr17:41246411–41,246,411

Missense

rs56128296

Exon 9

c.1137 T > G

p.Ile379Met

benign

1

BRCA1

chr17:41245471–41,245,471

Missense

rs4986850

Exon 9

c.2077G > A

p.Asp693Asn

benign

5

BRCA1

chr17:41256155–41,256,155

Missense

rs55971303

Exon 10

c.425C > A

p.Pro142His

benign

1

BRCA2

chr13:32906480–32,906,480

Missense

rs766173

Exon 10

c.865A > C

p.Asn289His

benign

1

BRCA1

chr17:41245090–41,245,090

Missense

rs56082113

Exon 10

c.2458A > G

p.Lys820Glu

benign

2

BRCA1

chr17:41244429–41,244,429

Missense

rs4986852

Exon 10

c.3119G > A

p.Ser1040Asn

benign

2

BRCA1

chr17:41244936–41,244,936

Missense

rs799917

Exon11

c.2612C > T

p.Pro871Leu

benign

70

BRCA2

chr13:32911278–32,911,278

Missense

rs2227943

Exon 11

c.2786 T > C

p.Leu929Ser

benign

1

BRCA2

chr13:32912679–32,912,679

Missense

rs55969723

Exon 11

c.4187A > G

p.Gln1396Arg

benign

1

BRCA2

chr13:32914132–32,914,132

Missense

rs11571657

Exon 11

c.5640 T > G

p.Asn1880Lys

benign

1

BRCA2

chr13:32914196–32,914,196

Missense

rs4987048

Exon 11

c.5704G > A

p.Asp1902Asn

benign

1

BRCA2

chr13:32914712–32,914,712

Missense

rs34309943

Exon 11

c.6220C > A

p.His2074Asn

benign

1

BRCA1

chr17:41226423–41,226,423

Missense

rs55815649

Exon 13

c.4600G > A

p.Val1534Met

benign

1

BRCA2

chr13:32929309–32,929,309

Missense

rs4986860

Exon 14

c.7319A > G

p.His2440Arg

benign

1

BRCA2

chr13:32953529–32,953,529

Missense

rs4987047

Exon 22

c.8830A > T

p.Ile2944Phe

benign

1

BRCA2

chr13:32972884–32,972,884

Missense

rs1801426

Exon 27

c.10234A > G

p.Ile3412Val

benign

3

  1. *Novel mutations (1 unreported) are shown in bold