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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)