Table 1 Prioritized variants in the positive control
Gene | mRNA Protein | rsID (dbSNP 142) | Category | Consequence | Ref |
|---|---|---|---|---|---|
BRCA1 | c.5136G > A | rs80357418 | Nonsense | 151 AA short | [142] |
p.Trp1712Ter | |||||
BRCA2 | c.3218A > G | rs80358566 | SRFBS | Repressor action of hnRNPA1 at this site abolished (5.2 to 0.4 bits). Blocking action of PTB removed as site is abolished (5.5 to -7.5 bits) and may uncover binding sites of other SRFs. |  |
p.Gln1073Arg | |||||
Missense | Listed in ClinVar as conflicting interpretations (likely benign, unknown) and in BIC as unknown clinical importance. 2 in silico programs called deleterious. The variant occurs between repeat motifs BRC1 and BRC2 of BRCA2, a region in which pathogenic missense mutations have not yet been identified. | [143] | |||
SRFBS | Repressor action of hnRNPA1 at this site abolished (5.2 to 0.4 bits). Blocking action of PTB removed as site is abolished (5.5 to -7.5 bits) and may uncover binding sites of other SRFs. |