Supplementary Table S3b. P/LP variants detected in the BRCA2 gene.
| S. no. | Variant description (HGVS) |
Protein change | ClinVar status | Age (years) |
Sub-type | FH |
|---|---|---|---|---|---|---|
| 1 | NM_000059.4: c.3182del |
NP_000050.3: p. (Lys1061Serfs*16) |
P | 34 | TNBC | +B |
| 2. | NM_000059.4: c.4570_4573del |
NP_000050.3: p. (Phe1524fs) |
P | 55 | HR | − |
| 3. |
NM_000059.4: c.1909+2T>C |
Splice site | LP | 33 | TNBC | + |
| 4. |
NM_000059.4: c.3785C>A |
NP_000050.3: p. (Ser1262Ter) |
P | 43 | TP | NA |
| 5. |
NM_000059.4: c.126T>A |
NP_000050.3: p. (Tyr42*) |
P | 35 | TNBC | +B,O |
| 6. |
NM_000059.4: c.347_350del |
NP_000050.3: p. (Ser116Ilefs*4) |
P | 55 | TP | +B |
| 7. |
NM_000059.4: c.6486_6489del |
NP_000050.3: p. (Lys2162fs) |
P | 36 | HR | − |
+, family history present; −, family history negative; NA, information not available; B, breast cancer in FDR; O, ovarian cancer in FDR; FDR, first degree relative; TNBC, triple negative breast cancer; TP, triple positive; HR, hormone receptor positive