Table 2.
Pathogenic/likely pathogenic germline BRCA1 variants found in our study.
| HGVSc Nomenclature | HGVSp Nomenclature | Effect | Exon | Frequency % (n=64) | Tumor type | Mutation type | Reference |
|---|---|---|---|---|---|---|---|
| 2105dupT | Leu702Phefs*10 | L702Ffs*10 | 10 | 18.75% (12) | OC (9), TNBC (3) | inframe insertion | ACMG |
| 68_69delAG | Glu23Valfs*17 | E23Vfs*17 | 2 | 9.38% (6) | OC (5), TNBC (1) | inframe deletion | ACMG/ClinVar |
| 140G>T | Cys47Phe | C47F | 4 | 7.81% (5) | OC (4), TNBC (1) | missense | ACMG/ClinVar |
| 815_824dupAGCCATGTGG | Thr276Alafs*14 | T276Afs*14 | 10 | 7.81% (5) | OC | inframe insertion | ACMG/ClinVar |
| 5123C>A | Ala1708Glu | A1708E | 17 | 6.25% (4) | OC (3), TNBC (1) | missense | ACMG/ClinVar |
| 1961delA | Lys654Serfs*47 | K654Sfs*47 | 10 | 4.69% (3) | OC (2), BC (HER2- RH+, 1) | inframe deletion | ACMG/ClinVar |
| 2344dupA | Ser782Lysfs*8 | S782Kfs*8 | 10 | 3.13% (2) | OC | inframe insertion | ACMG/ClinVar |
| 5251C>T | Arg1751* | R1751* | 19 | 3.13% (2) | OC (1), TNBC (1) | missense | ACMG/ClinVar |
| 62_66delTCTTA | Ile21Argfs*18 | I21Rfs*18 | 2 | 1.56% (1) | OC | inframe deletion | ACMG |
| 211A>G | Arg71Gly | R71G | 4 | 1.56% (1) | OC | missense | ACMG/ClinVar |
| 250G>T | Glu84* | E84* | 5 | 1.56% (1) | OC | missense | ACMG/ClinVar |
| 798_799delTT | Ser267Lysfs*19 | S267Kfs*19 | 10 | 1.56% (1) | OC | inframe deletion | ACMG/ClinVar |
| 928C>T | Gln310* | Q310* | 10 | 1.56% (1) | TNBC | missense | ACMG/ClinVar |
| 1088delA | Asn363Ilefs*11 | N363Ifs*11 | 10 | 1.56% (1) | OC | inframe deletion | ACMG/ClinVar |
| 1700dupA | Asn567Lysfs*3 | N567Kfs*3 | 10 | 1.56% (1) | OC | inframe insertion | ACMG/ClinVar |
| 2215A>T | Lys739* | K739* | 10 | 1.56% (1) | OC | missense | ACMG/ClinVar |
| 2493T>G | Tyr831* | Y831* | 10 | 1.56% (1) | OC | stop gained | ACMG |
| 2544delA | Glu849Lysfs*44 | E849Kfs*44 | 10 | 1.56% (1) | OC | inframe deletion | ACMG |
| 2649_2650delAA | Thr884Ilefs*18 | T884Ifs*18 | 10 | 1.56% (1) | OC | inframe deletion | ACMG/ClinVar |
| 2766delA | Val923Leufs*77 | V923Lfs*77 | 10 | 1.56% (1) | OC | inframe deletion | ACMG/ClinVar |
| 2839A>T | Lys947* | K947* | 10 | 1.56% (1) | OC | missense | ACMG/ClinVar |
| 2901_2902dupTC | Pro968Leufs*33 | P968Lfs*33 | 10 | 1.56% (1) | OC | inframe insertion | ACMG/ClinVar |
| 2913delT | His971Glnfs*29 | H971Qfs*29 | 10 | 1.56% (1) | OC | inframe deletion | ACMG |
| 3005delA | Asn1002Thrfs*22 | N1002Tfs*22 | 10 | 1.56% (1) | OC | inframe deletion | ACMG/ClinVar |
| 3455delA | Asp1152Alafs*3 | D1152Afs*3 | 10 | 1.56% (1) | TNBC | inframe deletion | ACMG/ClinVar |
| 3626T>A | Leu1209* | L1209* | 10 | 1.56% (1) | OC | missense | ACMG |
| 3800T>G | Leu1267* | L1267* | 10 | 1.56% (1) | OC | missense | ACMG/ClinVar |
| del exon 11 | 11 | 1.56% (1) | OC | deletion variant | |||
| 4327C>T | Arg1443* | R1443* | 12 | 1.56% (1) | TNBC | missense | ACMG/ClinVar |
| 4484G>T | Arg1495Met | R1495M | 13 | 1.56% (1) | OC | missense | ACMG/ClinVar |
| 5158C>T | Arg1720Trp | R1720W | 18 | 1.56% (1) | OC | missense | ACMG/ClinVar |
| 5266dupC | Gln1756Profs*74 | Q1756Pfs*74 | 19 | 1.56% (1) | TNBC | inframe insertion | ACMG/ClinVar |
| 67_75delGAGTGTCCC | Glu23_Pro25del | E23_P25del | 2 | 1.56% (1) | TNBC | inframe deletion | ACMG/ClinVar* |