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Table 1 Prioritized variants in the positive control

From: A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer

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.