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Table 1 Genetic results of HS patient

From: Exome sequencing for diagnosis of congenital hemolytic anemia

Patient ID

Gene name

transcript

Nucleotide change

AA change

zygosity

References

rsNumber

gnomAD allele frequency

Polyphen-2

Mutation taster

MaxEnt Scan

CADD score

ACMG class

P1

ANK1

NM_020476

c.5152C > T

p.Gln1718*

het

No

0

NA

NA

 

37

LP

 

HBA1

NM_0005558

c.389 T > C

p.L130P

het

Darbellay et al 1995

0

PD

DC

 

23.4

LP

P2

ANK1

NM_020476

c.1702-2A > C

 

het

No ref

0

NA

NA

−100%

34

LP

 

HFE

NM_000410

c.187C > G

p.H63D

het

Kaczorowska-Hac et al 2016

rs1799945

10.83%

B

P

 

12.8

VUS

 

HFE

NM_000410

c.845G > A

p.C282Y

het

Kaczorowska-Hac et al 2016

rs1800562

3.37%

PD

DC

 

25.2

P

P3

SLC4A1

NM_000342

c.1458C > G

p.Y486*

het

No

0

NA

NA

 

35

LP

P4

SLC4A1

NM_000342

c.486-2A > G

 

het

no

0

NA

NA

−100%

25.3

P

P5

SPTB

NM_001024858

c.1331_1338del

p.Leu444Profs*3

het

Dhermy et al 1998

0

NA

DC

  

P

P6

ANK1

NM_020476

c.5497C > T

p.R1833*

het

Hayette et al 1998

0

   

47

P

P7

SLC4A1

NM_000342

c.1322 T > G

p.L441R

het

No

0

PD

DC

No effect

26.8

VUS

P8

ANK1

NM_020476

c.1801-17G > A

 

het

Duru et al

rs786205243

0

  

Creation of a cryptic acceptor

8.2

LP

P9

ANK1

NM_020476

c.4462C > T

p.R1488*

het

Ozcan et al 2003

rs777701149

0

   

36

P

P10

ANK1

NM_020476

c.1A > G

p.?

het

no

0

NA

NA

NA

14.3

P

P11

SPTB

NM_001024858

c.2863C > T

p.R955*

het

no

0

NA

NA

NA

37

P

 

SPTA1

NM_003126

c.6421C > T

p.R2141W

het

Niss et al 2016

rs41273519

0.2%

PD

DC

 

27.4

LP

P12

SPTB

NM_001024858

c.4973 + 5G > A

 

het

no

0

NA

NA

−100%

16.48

VUS

P13

ANK1

NM_020476

c.534delC

p.H178Qfs*75

het

no

0

NA

NA

  

LP

P14

SPTB

NM_001024858

c.5623C > T

p.Q1875*

het

no

0

NA

NA

 

48

LP

P15

SLC4A1

NM_000342

c.1462G > A

p.V488M

het

Alloisio et al 1997

rs28931584

0.00041%

PD

DC

No effect

24.5

P

P16

ANK1

NM_020476

c.712-2A > G

 

het

no

0

NA

NA

−100%

34

LP

P17

SLC4A1

NM_000342

c.2423G > A

p.R808H

het

Bogardus et al 2012

rs866727908

0

PD

DC

No effect

33

LP

 

PIEZO1

 

c.2578G > A

p.V860M

het

rs532390680

0.0028%

PossD

DC

No effect

 

VUS

P18

SLC4A1

NM_000342

c.2279G > A

p.R760Q

het

Jarolim et al 1995

0

PD

DC

No effect

29.6

LP

P19

SPTB

NM_001024858

c.3436dup

p.L1146Pfs*36

het

no

0

NA

NA

  

LP

 

SPTB

NM_001024858

c.6101G > A

p.S2034N

het

no

0.00041%

B

DC

No effect

22.9

VUS

P20

SPTB

NM_001024858

c.3916C > T

p.R1306*

het

No

rs150471537

0

NA

NA

 

38

LP

  1. Table 1 legend: Variants description and classification according to ACMG guidelines as benign likely benign (LB) variant of uncertain significance (VUS) likely pathogenic (LP) or pathogenic (P). In silico study of missense variations was assessed thanks to Polyphen-2, Mutation taster and CADD score algorithm. HGMD professional and pubmed web interface were used to check for variants description in litterature. Abbreviations: het: heterozygous state; hom: homozygous state; hem: hemizygous state; F: female; M: male; HS: hereditary spherocytosis; gnomAD: genome agregation database https://gnomad.broadinstitute.org; ND: not done; NA: not applicable; DC: disease causing; P: polymorphism; PD: probably damaging; PossD: possibly damaging; B: benign.