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Table 4 Variants resulting in premature protein truncation

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

Patient ID Gene Exon mRNA Protein rsID (dbSNP 142) ClinVard,e,f Details Ref
Allele Frequency (%)c
Insertions/Deletions
5-1B BRCA1 15 of 23 c.4964_4982del19a rs80359876 6d; Pathogenic/likely pathogenice; Familial breast and breast-ovarian cancer, Hereditary cancer-predisposing syndromef. STOP at p.1670 -
p.Ser1655Tyrfs 193 AA short
5-3C BRCA1 19 of 23 c.5266_5267insCa rs397507247 13d; Pathogenic, risk factore; Familial breast, breast-ovarian, and pancreatic cancer, Hereditary cancer-predisposing syndromef. STOP at p.1788 [148, 154]
p.Gln1756Profs 75 AA short
5-3A PALB2 4 of 13 c.1617_1618insTTa - 1d; Pathogenice; Hereditary cancer-predisposing syndromef. STOP at p.561 -
p.Asn540Leufs 626 AA short
Stop Codons
7-1G BRCA2 15 of 27 c.7558C > Tb rs80358981 5d; Pathogenice; Familial breast, and breast-ovarian cancer, Hereditary cancer-predisposing syndromef. 899 AA short [158]
p.Arg2520Ter
4-4A BRCA2 25 of 27 c.9294C > Ga rs80359200 3d; Pathogenice; Familial breast and breast-ovarian cancerf. 321 AA short [159]
p.Tyr3098Ter
7-3A PALB2 4 of 13 c.1240C > Ta rs180177100 3d; Pathogenice; Familial breast cancer, Hereditary cancer-predisposing syndromef. 773 AA short [58]
p.Arg414Ter
4-4D PALB2 4 of 13 c.1042C > Ta Novel - 839 AA short -
p.Gln348Ter
  1. aConfirmed by Sanger sequencing
  2. bNot confirmed by Sanger sequencing
  3. cIf available
  4. dNumber of submissions
  5. eClinical significance
  6. fCondition(s)