. 2016 Apr 11;9:19. doi: 10.1186/s12920-016-0178-5

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]
BRCA1	p.Trp1712Ter	rs80357418	Nonsense	151 AA short	[142]
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		SRFBS
			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.	[143]