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Table 3 Description of compound heterozygous variants detected in the DSRCT patient. Each one of the variants was exclusively inherited by one of the parents. The genotype and variant frequency were obtained by leukocyte DNA sequencing. All variants were validated by Sanger sequencing

From: A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease

Gene

cDNA change

Protein change

dbSNP (MAF)

Mother

Father

Patient

Polyphen

Sift

Mutation Taster

Genotype

Variant Frequency

Genotype

Variant Frequency

Genotype

Variant Frequency

C2CD3

c.5653 T > C

p.S1885P

rs142277857 (0.001)

T/C

43.1

T/T

-

T/C

53.57

PrD

D

P

c.3223A > C

p.S1075R

-

A/A

-

A/C

50.91

A/C

41.67

PrD

D

DC

FAM13C

c.1361G > A

p.R454H

rs369226393

G/A

56.4

G/G

-

G/A

50

B

T

P

c.439C > T

p.P147S

rs73299227 (0.0092)

C/C

-

C/T

51,43

C/T

36.36

PD

D*

DC

GOLGA3

c.209G > A

p.G70E

rs2291256 (0.0581)

G/A

52.3

G/G

-

G/A

47.06

B

D*

P

c.3728G > A

p.R1243Q

rs140646528 (0.0134)

G/G

-

G/A

60

G/A

25

B

T

P

LAMB2

c.1424G > A

p.R475Q

rs370565848

G/A

36.4

G/G

-

G/A

60

PrD

T

P

c.5293G > A

p.A1765T

rs74951356 (0.0130)

G/G

-

G/A

55.81

G/A

41.18

B

T

DC

MTMR6

c.685C > G

p.P229A

rs149526134 (0.0002)

C/G

60.9

C/C

-

C/G

26.32

B

T

P

c.1795G > A

p.A599T

rs62619824 (0.0571

G/G

-

G/A

35.09

G/A

51.85

B

T

DC

RSPH1

c.742G > A

p.G248R

rs117385282 (0.0839)

G/A

50

G/G

-

G/A

31.25

B

T

P

c.733G > A

p.G245R

rs151158140 (0.0026)

G/G

-

G/A

50.77

G/A

58.33

PD

T

P

SLC9A9

c.1765A > G

p.I589V

rs2289491 (0.0290)

A/G

31.1

A/A

-

A/G

28

B

T

P

c.1618A > G

p.I540V

rs16853300 (0.0066)

A/A

-

A/G

48.62

A/G

36.36

B

T

P

SPICE1

c.2470A > C

p.T824P

rs57006145 (0.0313)

A/C

40.4

A/A

-

A/C

62.16

PrD

T

DC

c.850G > A

p.V284M

rs73239152 (0.0078)

G/G

-

G/A

47.54

G/A

29.27

B

D

DC

SYNE1

c.16277C > T

p.T5426M

rs2306914 (0.0463)

C/T

39.1

C/C

-

C/T

41.07

B

T

P

c. 12442G > C

p.D4148H

rs117501809 (0.0124)

G/G

-

G/C

49.15

G/C

28.57

PrD

D

P

TAF5L

c.721G > A

p.V241I

rs55655740 (0.0042)

G/A

36.0

G/G

-

G/A

48

B

-

DC

c.1123A > G

p.T375A

rs41304137 (0.0008)

A/A

-

A/G

20

A/G

40

PrD

T

P

TTN

c.106619 T > C

p.I35540T

rs55880440 (0.0046)

T/C

40.0

T/T

-

T/C

57.69

-

-

P

c.65147C > T

p.S21716L

rs13021201 (0.0108)

C/C

-

C/T

42.86

C/T

58.14

-

-

P

  1. MAF Minor allele frequency, PrD Probably damaging, B Benign, PD Possibly damaging, D Damaging, T Tolerated, DC Disease causing, P Polymorphism. (*) low confidence prediction
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Human Genomics

ISSN: 1479-7364