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 |