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 |
---|---|---|---|---|---|---|---|---|
BRCA1 | chr17:41222939–41,222,939 | Intron | rs80358086 | Intronic | c.4986 + 6 T > C | pathogenic | 7 | |
BRCA1 | chr17:41276061–41,276,061 | Missense | rs80356929 | Exon2 | c.53 T > C | p.Met18Thr | likely_pathogenic | 1 |
BRCA1 | chr17:41267755–41,267,755 | Missense | rs80357276 | Exon 3 | c.122A > T | p.His41Leu | likely_pathogenic | 1 |
BRCA2 | chr13:32893402–32,893,402 | frameshift | Unreported | Exon 3 | c.256del | p.Leu86Ter | Pathogenic | 1 |
BRCA2 | chr13:32911384–32,911,385 | frameshift | Unreported | Exon 3 | c.2892_2893insC | p.Met965HisfsTer17 | Pathogenic | 1 |
BRCA2 | chr13:32914767–32,914,773 | frameshift | rs80359572 | Exon 3 | c.6280_6286del | p.Tyr2094LeufsTer23 | pathogenic | 2 |
BRCA2 | chr13:32929224–32,929,225 | frameshift | rs397507906 | Exon 3 | c.7234_7235insG | p.Thr2412SerfsTer2 | pathogenic | 4 |
BRCA2 | chr13:32953609–32,953,609 | stop_gained | rs886040799 | Exon 3 | c.8910G > A | p.Trp2970Ter | pathogenic | 1 |
BRCA2 | chr13:32953902–32,953,902 | stop_gained | rs80359148 | Exon 3 | c.8969G > A | p.Trp2990Ter | pathogenic | 1 |
BRCA1 | chr17:41267746–41,267,746 | Missense | See in ClinVar | Exon 4 | c.131G > C | p.Cys44Ser | Pathogenic | 1 |
BRCA1 | chr17:41215374–41,215,374 | frameshift | rs80357553 | Exon 4 | c.5169del | p.Glu1725LysfsTer5 | Pathogenic | 1 |
BRCA1 | chr17:41244539–41,244,540 | frameshift | rs80357617 | Exon4 | c.3008_3009del | p.Phe1003Ter | pathogenic | 1 |
BRCA1 | chr17:41246734–41,246,735 | stop_gained | Unreported | Exon 4 | c.813_814insTAGCCATGTG | p.Glu272Ter | Pathogenic | 1 |
BRCA1 | chr17:41246723–41,246,724 | frameshift | rs387906563 | Exon 10 | c.815_824dup | p.Thr276Alafs*14 | pathogenic | 13 |
BRCA2 | chr13:32914292–32,914,292 | stop_gained | rs886040610 | Exon 11 | c.5800C > T | p.Gln1934Ter | pathogenic | 1 |
BRCA2 | chr13:32914617–32,914,617 | Missense | rs80358852 | Exon 11 | c.6125A > G | p.Gln2042Arg | Conflicting of pathogenicity | 1 |