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Table 3 Details of PCCB 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 3

c.365T>C

p.F122S

1/64

LP

PM2, PM3, PP1, PP3, PP4

N/A

N/A

2

Exon 4

c.410A>G

p.H137R

1/64

LP

PM2, PM3, PP1, PP3, PP4

N/A

0.000007964

3

Exon 7

c.703A>C

p.T235P

1/64

LP

PM2, PM3, PP1, PP3, PP4

N/A

N/A

4

Exon 8

c.800C>A

p.A267D

2/64

LP

PM2, PM3, PP1, PP3, PP4

N/A

N/A

5

Exon 8

c.839delT

p.L280Rfs*68

1/64

P

PVS1, PM2, PP1, PP3, PP4

N/A

N/A

6

Exon 9

Del

N/A

1/64

P

PVS1, PM2, PP1, PP3, PP4

N/A

N/A

7

Exon 10

c.967_969delGTT

p.323delV

1/64

LP

PM2, PM4, PP1, PP3, PP4

N/A

N/A

8

Exon 12

c.1216delG

p.G407Afs*36

2/64

P

PVS1, PM2, PP1, PP3, PP4

N/A

N/A

9

Exon 12

c.1234G>A

p.G412S

1/64

LP

PS4, PM2, PP1, PP3, PP4

N/A

N/A

10

Exon 13

c.1339C>T

p.L447F

1/64

LP

PM2, PM3, PP1, PP3, PP4

N/A

N/A

Reported

11

Exon 1

c.30_39del10

p.G11Sfs*51

2/64

N/A

N/A

CD024190

N/A

12

Exon 1

c.167_179delinsC

p.56_60delinsA

4/64

N/A

N/A

CX087567

N/A

13

Exon 3

c.331C>T

p.R111*

4/64

N/A

N/A

CM119112

0.00001988

14

Exon 5

c.457G>C

p.A153P

1/64

N/A

N/A

CM043325

N/A

15

Exon 5

c.493C>T

p.R165W

1/64

N/A

N/A

CM930576

0.000005873

16

Exon 7

c.733G>A

p.G245S

3/64

N/A

N/A

VCV000638037

0.00001592

17

Exon 8

c.838dupC

p.L280Pfs*11

8/64

N/A

N/A

CI146342

N/A

18

Exon 9

c.894_895insC

V299Rfs*3

1/64

N/A

N/A

CM1110016

N/A

19

Exon 10

c.1087T>C

p.S363P

6/64

N/A

N/A

CM1510640

0.00003181

20

Exon 11

c.1127G>T

p.R376L

3/64

N/A

N/A

CM1110015

N/A

21

Exon 12

c.1228C>T

p.R410W

5/64

N/A

N/A

CM930577

0.00002833

22

Exon 12

c.1253C>T

p.A418V

1/64

N/A

N/A

CM087564

N/A

23

Exon 12

c.1262A>G

p.E421G

1/64

N/A

N/A

VCV000624228

N/A

24

Exon 12

c.1283C>T

p.T428I

5/64

N/A

N/A

CM930578

0.00002390

25

Exon 13

c.1316A>G

p.Y439C

3/64

N/A

N/A

CM022052

0.00001591

26

Exon 13

c.1373C>T

p.A458V

1/64

N/A

N/A

VCV000638044

N/A

27

Exon 14

c.1495C>T

p.R499*

1/64

N/A

N/A

CM930579

0.000003980

28

Exon 15

c.1540C>T

p.R514*

1/64

N/A

N/A

CM983750

0.000007076

  1. aThe reference transcript is NM_000532.5
  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
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172