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Table 2 Pathogenic single nucleotide variants in BIC and ClinVar

From: New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing

Variant Type Evidence of pathogenicity Count
BRCA1
Q563X * Nonsense BIC, ClinVar 8
W1782X Nonsense BIC, ClinVar 2
Y1563X Nonsense BIC, ClinVar 1
Q538X Nonsense BIC, ClinVar 1
E1415X Nonsense   1
C1501X Nonsense   1
R1699W Missense BIC, ClinVar 2
BRCA2
Q92X Nonsense BIC, ClinVar 1
c.9118-2A > G IVS BIC, ClinVar 3
P3039P Splice BIC, ClinVar 1
Q3047X Nonsense   1
N3124I Missense ClinVar, Condel 6
I2627F Missense ClinVar, Condel 1
c.8754 + 5G > T IVS ClinVar 2
  1. * Patients with ovarian and breast cancer.
  2. IVS intronic variant near splice site; Splice variant in the splice region of exon.
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BMC Medical Genomics

ISSN: 1755-8794

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