Table 3.
BRCA2 prioritized variants
| Gene | hg19 Position (Chr13) | Variant namea | rsID | Global MAF in dbSNP | TF motif (ENCODE)b | Bioinformatic priority |
|---|---|---|---|---|---|---|
| BRCA2 | g.32889437G>A | c.‐407G>A | rs36221751 | 0.0018 | Medium | |
| BRCA2 | g.32889449C>T | c.‐395C>T | Novel | Medium | ||
| BRCA2 | g.32889548C>T | c.‐296C>T | rs563971900 | 0.0004 | PAX5 | High/medium |
| BRCA2 | g.32889564delG | c.‐280del | Novel | ELF1, GABPA, ELK1,4 | High | |
| BRCA2 | g.32889576C>G | c.‐268C>G | Novel | High/medium | ||
| BRCA2 | g.32889626G>A | c.‐218G>A | Novel | Medium | ||
| BRCA2 | g.32889644C>T | c.‐200C>T | Novel | MAZ | Medium | |
| BRCA2 | g.32889647A>C | c.‐197A>C | rs370721506 | NA | MAZ | Medium |
| BRCA2 | g.32889669C>T | c.‐175C>T | rs55880202 | 0.0058 | Medium | |
| BRCA2 | g.32889711T>G | c.‐133T>G | Novel | Medium | ||
| BRCA2 | g.32889757T>G | c.‐87T>G | Novel | Medium/low | ||
| BRCA2 | g.32889762G>C | c.‐82G>C | Novel | Medium/low |
NA, no data available, TF, transcription factors.
a
Based on NM_000059.3.
b
Overlap with TF motif in ENCODE TF‐ChIP datasets from all cells.