Table 3.
Variants of Uncertain Significance (VUS) Mutations in BRCA1 and BRCA2.
| Gene | Nucleotide change | Amino acid change | Variant type | Frequency |
|---|---|---|---|---|
| BRCA2 | c.9875C>T | p.Pro3292Leu | missense | 4 |
| BRCA2 | c. 9613_9614delinsCT | p.Ala3205Leu | missense | 4 |
| BRCA2 | c.62A>G | p.Lys21Arg | missense | 2 |
| BRCA2 | c.502C>G | p.Pro168Ala | missense | 2 |
| BRCA2 | c.4621A>C | p.Lys1541Gln | missense | 2 |
| BRCA1 | c.994C>T | p.Arg332Trp | missense | 2 |
| BRCA2 | c.4252A>G | p.Ile1418Val | missense | 3 |
| BRCA2 | c.865A>G | p.Asn289Asp | missense | 2 |
| BRCA2 | c.5126A>C | p.Asp1709Ala | missense | 2 |
| BRCA1 | c.5333-6T>C | NA | Intron Variant | 2 |
| BRCA2 | c.9586A>G | p.Lys3196Glu | missense | 2 |
| BRCA1 | c.851A>G | p.Gln284Arg | missense | 2 |
| BRCA2 | c.8632G>C | p.Glu2878Gln | missense | 3 |
| BRCA2 | c.8332-3C>G | NA | Intron Variant | 2 |
| BRCA2 | c.7534C>T | p.Leu2512Phe | missense | 4 |
| BRCA2 | c.6521T>C | p.Val2174Ala | missense | 2 |
| BRCA2 | c.8774A>G | p.Gln2925Arg | missense | 2 |
| BRCA1 | c.2604A>G | p.Ser868= | synonymous | 1 |
| BRCA2 | c.5976A>G | p.Ser1992= | synonymous | 1 |
| BRCA1 | c.693G>A | p.Thr231= | synonymous | 1 |
| BRCA2 | c.122C>T | p.Pro41Leu | missense | 3 |
| BRCA2 | c.10202C>T | p.Thr3401Met | missense | 1 |
| BRCA2 | c.7806-6G>T | NA | Intron Variant | 1 |
| BRCA2 | c.1915T>C | p.= | synonymous | 1 |
| BRCA1 | c.3367G>T | p.Asp1123Tyr | missense | 1 |
| BRCA1 | c.4028A>T | p.Asp1343Val | missense | 1 |
| BRCA1 | c.5555C>T | p.Thr1852Ile | missense | 1 |
| BRCA1 | c.2123 C>A | p.Ser708Tyr | missense | 1 |
| BRCA1 | c.5504G>A | p.Arg1835Gln | missense | 1 |
| BRCA2 | c.2396A>G | p.Lys799Arg | missense | 1 |
| BRCA2 | c.2366 A>G | p.Leu2366Val | missense | 1 |
| BRCA2 | c.4943C>T | p.Ala1648Val | missense | 1 |
| BRCA1 | c.4185+10G>A | NA | Intron Variant | 1 |
| BRCA2 | c.7462A>G | p.Arg2488Gly | missense | 1 |
| BRCA2 | c.8755-19 A>G | NA | Intron Variant | 2 |
| BRCA2 | c.3676A>C | p.Lys1226Gln | missense | 2 |
| BRCA2 | c.10078A>G | p.Lys3360Glu | missense | 1 |
| BRCA1 | c.4412G>A | p.Gly1471Asp | missense | 1 |
| BRCA2 | c.5897A>G | p.His1966Arg | missense | 2 |
| BRCA1 | c.4045A>C | p.Thr1349Pro | missense | 1 |
| BRCA2 | c.2332G>C | p.Val778Ile | missense | 1 |
| BRCA2 | c.277T>G | p.Ser93Ala | missense | 1 |
| BRCA2 | c.5590G>A | p.Asp1864Asn | missense | 1 |
| BRCA1 | c.5074+6 C>G | NA | Intron Variant | 1 |
| BRCA1 | c.478G>A | p.Gly160Arg | missense | 1 |
| BRCA2 | c.1769T>G | p.Phe590Cys | missense | 1 |
| BRCA2 | c.1793C>T | p.Thr598Ile | missense | 1 |
| BRCA2 | c.9839C>A | p.Pro3280His | missense | 1 |
| BRCA2 | c.280 C>T | p.Pro94Ser | missense | 1 |
| BRCA2 | c.9754_9765del | p.Ser3252_Gly3255del | deletion | 1 |
| BRCA2 | c.800G>A | p.Gly267Glu | missense | 1 |
| BRCA1 | c.3149G>C | p.Gly2748Asp | missense | 1 |
| BRCA1 | c.539T>C | p.Ile180Thr | missense | 1 |
| BRCA1 | c.3587C >T | p.Thr1196Ile | missense | 2 |
| BRCA2 | c.4954G>A | p.Ala1652Pro | missense | 1 |
| BRCA1 | c.3642G>T | p.Glu1214Asp | missense | 1 |
| BRCA2 | c.7301A>C | p.Lys2434Thr | missense | 1 |
| BRCA1 | exon 5-8 duplication | NA | duplication | 1 |
| BRCA2 | c.1550A>G | p.Asn517Ser | missense | 1 |
| BRCA2 | c.9502-12T>G | NA | Intron Variant | 1 |
| BRCA2 | c.6986 C>T | p.Pro2329Leu | missense | 1 |
| BRCA2 | c.752C>G | p.Thr251Arg | missense | 1 |
| BRCA1 | c.3526 G>A | p.Val1176Ile | missense | 1 |
| BRCA1 | c.1662G>C | p.Glu554Asp | missense | 1 |
| BRCA2 | c.2072 C>T | p.Ala691Val | missense | 1 |
| BRCA2 | c.9378G>C | p.Gln3126= | synonymous | 1 |
| BRCA1 | c.509G>A | p.Arg170Gln | missense | 1 |
| BRCA2 | c.9781G>A | p.Asp3261Asn | missense | 1 |
| BRCA2 | c.1263 A>G | p.= | synonymous | 1 |
| BRCA1 | c.1446_1448del | p.Ile483del | missense | 1 |
| BRCA2 | c.4594G>T | p.Val1532Phe | missense | 1 |
| BRCA2 | c.9418G>A | p.Ala3140Thr | missense | 1 |
| BRCA2 | c.2779A>G | p.Met927Val | missense | 1 |
| BRCA1 | c.4357+5G>A | NA | Intron Variant | 1 |
| BRCA2 | c.7992T>G | p.Ile2664Met | missense | 1 |
| BRCA2 | c.644_646del | p.Glu215del | deletion | 1 |
| BRCA1 | Exons 1-2 Duplication | NA | duplication | 1 |
| BRCA2 | c.6945 A>G | p.Ile2315Met | missense | 1 |
| BRCA2 | c.340C>T | p.His114Tyr | missense | 1 |
| BRCA2 | c.8382C>G | p.Phe2794Leu | missense | 1 |
| BRCA2 | c.1691C>G | p.Pro564Leu | missense | 1 |
| BRCA1 | c.1333G>C | p.Glu445Gln | missense | 1 |
| BRCA2 | c.6916G>C | p.Ala2306Pro | missense | 1 |
| BRCA1 | c.4434G>C | p.Glu1478Asp | missense | 1 |
| BRCA2 | c.6805G>A | p.Gly2748Asp | missense | 1 |
Many patients had more than one variant, so total number of variants is more than the total number of patients.
p.= means the entire protein coding region was analyzed and no variant was found that changes (or is predicted to change) the protein sequence.