Your privacy, your choice

We use essential cookies to make sure the site can function. We also use optional cookies for advertising, personalisation of content, usage analysis, and social media.

By accepting optional cookies, you consent to the processing of your personal data - including transfers to third parties. Some third parties are outside of the European Economic Area, with varying standards of data protection.

See our privacy policy for more information on the use of your personal data.

for further information and to change your choices.

Skip to main content

Table 2 Pathogenic (class 5) and likely pathogenic (class 4) PMS2 variants identified in our cohort

From: PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants

DNA variant

cDNA

protein level

dbSNP

rs number

ClinVar# / LOVD, Insight

Class in present study

Number of carriers (number of families)

c.23 + 1G > A

p.(?)

587,782,074

LP, P / NR

LP

1 (1)

c.130G > C

p.(Glu44Gln)

786,202,669

VUS / NR

LP

16 (4)

c.137G > A

p.(Ser46Asn)

121,434,629

LP, P / VUS*

LP

¤

c.537 + 1G > T

r.[=], [354_537del, 354_586del, 354_589del] p.(Ser118Argfs*22), p.(Asp119Argfs*52) p.(Ser118Argfs*52)

863,224,450

NR / NR

c.537 + 1G > C

c.537 + 1G > A

LP

P

6 (2)

c.598del

p.(Val200*)

no

P / NA

P

24 (7)

c.631 C > T

p.(Arg211*)

760,228,510

P / P, VUS*

P

14 (5)

c.736_741delins11

p.(Pro246Cysfs*3)

267,608,150

P / P*

P

3 (1)

c.803 + 1_804-1)_(903 + 1_904-1)del

p.(Tyr268*)

Del ex8

no

P / P*

P

9 (2)

c.823 C > T

p.(Gln275*)

587,780,062

P / P

P

27 (3)

c.861_864del

p.(Arg287Serfs*19)

267,608,154

P / P*

P

3 (2)

c.989-1G > T

r.[=, 989_1144del, 989_1015del] p.(Glu330_Glu381del; Glu330_Pro338del)

587,780,064

P / P*

P

204 (58)

c.1112_1113delinsTTTA

p.(Asn371Ilefs*2)

587,779,326

P / P*

P

1 (1)

c.1239dup

p.(Asp414Argfs*44)

758,048,239

P / P

P

1 (1)

c.1261 C > T

p.(Arg421*)

587,778,617

P / LP, P*

P

1 (1)

c.1345 C > T

r.[=, 1345c > t]

p.(Gln449*)

876,661,256

P / NR

P

1 (1)

c.(1144 + 1_1145-1)_(2174 + 1_2175-1)dup

r.[=, 1145_2174dup]/ p.(Pro726*)

Dup ex11-12

no

LP / P*

P

34 (12)

c.1738 A > T

p.(Lys580*)

267,608,169

P / P*

P

1 (1)

c.1831dupA

p.(Ile611Asnfs*2)

63,750,250

P / P*

P

3 (2)

c.1882 C > T

p.(Arg628*)

63,750,451

P / VUS, P*

P

1 (1)

c.1939 A > T

p.(Lys647*)

201,451,115

P / P*

P

1 (1)

c.1970delA

p.(Asn657Ilefs*8)

1,064,794,566

LP, P / NR

P

19 (3)

c.2041 C > T

p.(Gln681*)

1,782,465,728

P / NR

P

¤

c.2113G > A§

p.(Glu705Lys)

267,608,161

VUS, LP, P / P, VUS*

LP

45 (10)

c.2156delA

p.(Gln719Argfs*6)

786,201,062

P / P

P

15 (5)

c.(2174 + 1_2175-1)_(2445 + 1_2446-1)del

p.(Pro726*)

Del ex13-14

No

NR / NR

P

1 (1)

c.2192_2196del

p.(Leu731Cysfs*)

63,750,695

P / P*

P

4 (1)

c.2382dupT

p.(Gly795Trpfs*29)

1,231,406,078

P / NR

P

8 (2)

c.2404 C > T

p.(Arg802*)

63,751,466

P / P*

P

1 (1)

c.2413 C > T

p.(Gln805*)

1,554,293,810

P / NA

P

¤

  1. # VUS: variant of uncertain significance, LP: Likely pathogenic, P: Pathogenic
  2. *Classified by the InSIGHT group
  3. ¤ Clinical data missing
  4. NR: not reported
  5. NA: In LOVD, not classified