Skip to main content

Table 2 Details of PCCA variants detected in the 60 Chinese patients

From: Analysis of the relationship between phenotypes and genotypes in 60 Chinese patients with propionic acidemia: a fourteen-year experience at a tertiary hospital

Novel/ reported

No

Exon

Nucleotide alterationa

Protein alteration

Allele frequency

ACMG/AMP grading

HGMD/Clinvar accession

Population frequency (GnomAD, v2.1.1)

Classification

Evidence code

Novel

1

Exon 1

c.2T>A

p.M1K

1/44

P

PVS1, PM2, PP1, PP3, PP4

N/A

N/A

2

Exon 1

c.43G>T

p.G15*

1/44

P

PVS1, PM2, PP1, PP3, PP4

N/A

N/A

3

Exon 2

c.130_131delinsTATT

p.C44Yfs*3

1/44

P

PVS1, PM2, PP1, PP3, PP4

N/A

N/A

4

Exon 5

c.305delA

p.H102Lfs*2

2/44

P

PVS1, PM2, PP1, PP3, PP4

N/A

N/A

5

Exon 5

c.331_332delTG

p.V112Wfs*7

1/44

P

PVS1, PM2, PP1, PP3, PP4

N/A

N/A

6

Exon 7

c.524G>A

p.G175D

1/44

LP

PM2, PM5, PP1, PP3, PP4

N/A

N/A

7

Exon 9

c.683G>T

p.G228V

1/44

LP

PM2, PM5, PP1, PP3, PP4

N/A

N/A

8

Exon 9–22

exon 9–22 del

N/A

1/44

LP

PVS1, PM2, PP1, PP4

N/A

N/A

9

Exon 10

c.734C>G

p.S245*

2/44

LP

PVS1, PM2, PP1, PP3, PP4

N/A

N/A

10

Exon 10

c.803G>T

p.R268L

1/44

LP

PM2, PM5, PP1, PP3, PP4

N/A

N/A

11

Exon 11

c.869G>A

p.C290Y

1/44

LP

PM2, PM5, PP1, PP3, PP4

N/A

N/A

12

Exon 11

c.872C>T

p.S291L

1/44

LP

PM2, PM5, PP1, PP3, PP4

N/A

N/A

13

Exon 12

c.917dupT

p.L308Ffs*35

1/44

P

PVS1, PM2, PP1, PP3, PP4

N/A

N/A

14

Exon 13

c.1066G>C

p.V356L

1/44

LP

PM2, PM3, PP1, PP3, PP4

N/A

N/A

15

Exon 13

c.1074_1076delTCC

p.359del

1/44

LP

PM2, PM4, PP1, PP3, PP4

N/A

N/A

16

Exon 15

c.1328_1329insT

p.Y444Lfs*3

1/44

P

PVS1, PM2, PP1, PP3, PP4

N/A

N/A

17

Exon 22

c.1919delC

p.R641Dfs*6

1/44

P

PVS1, PM2, PP1, PP3, PP4

N/A

N/A

18

Exon 23

c.2077A>T

p.M693L

1/44

LP

PM2, PM3, PP1, PP3, PP4

N/A

N/A

19

Exon 24

c.2162_2163insAAGG

p.D722Rfs*12

1/44

P

PVS1, PM2, PP1, PP3, PP4

N/A

N/A

Reported

20

Intron 1

c.105+1G>A

splicing

1/44

N/A

N/A

VCV000218251

N/A

21

Exon 3

c.229C>T

p.R77W

4/44

N/A

N/A

CM991015

0.00001997

22

Exon 3

c.229_230insGGGTGAGTAG

p.I79Sfs*5

1/44

N/A

N/A

CM991015

N/A

23

Intron 3

c.231+1G>T

splicing

1/44

N/A

N/A

CS066305

0.00001419

24

Exon 4

c.245G>A

p.C82Y

2/44

N/A

N/A

CM1510638

N/A

25

Exon 12

c.936dupT

p.R313Sfs*30

1/44

N/A

N/A

CM991019

N/A

26

Exon 12

c.937C>T

p.R313*

6/44

N/A

N/A

VCV00038870

0.00003538

27

Exon 13

c.1079T>G

p.V360G

1/44

N/A

N/A

CM087558

N/A

28

Exon 15

c.1288C>T

p.R430*

2/44

N/A

N/A

CM139564

0.000007102

29

Exon 15–16

Del

N/A

1/44

N/A

N/A

CG091566

N/A

30

Exon 22

c.2002G>A

p.G668R

6/44

N/A

N/A

CM991025

0.00001193

  1. aThe reference transcript is NM_000282.3
  2. ACMG/AMP, American College of Medical Genetics and Genomics and the Association for Molecular Pathology; HGMD, human gene mutation database; N/A, not available; LP, likely to be pathogenic; P, pathogenic