Table 6. [Notable DDX41 Pathogenic Variants]. - GeneReviews®

Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Comment [Reference]
NM_016222.4 NP_057306.2	c.3G>A	p.Met1Ile (p.M1?)	Common recurrent germline variant, esp in persons of European ancestry [Cheah et al 2017, Quesada et al 2019, Bannon et al 2021]
c.19G>T	p.Glu7Ter	Common recurrent germline variant in persons of Korean & Japanese ancestry [Choi et al 2021]
c.62_63delGC	p.Ser21ThrfsTer7	Recurrent germline variant in persons of Thai ancestry [Polprasert et al 2020]
c.121C>T	p.Gln41Ter	Common recurrent germline variant, esp in persons of European ancestry [Bannon et al 2021]
c.415_418dupGATG	p.Asp140GlyfsTer2	Common recurrent germline variant, esp in persons of European ancestry [Polprasert et al 2015, Cheah et al 2017, Quesada et al 2019, Bannon et al 2021]
c.455T>G	p.Val152Gly	Common recurrent germline variant in persons of Korean ancestry [Choi et al 2021]
c.517G>A	p.Gly173Arg	Common recurrent germline variant, esp in persons of European ancestry [Sébert et al 2019]
c.776A>G	p.Tyr259Cys	Common recurrent germline variant in persons of Korean & Japanese ancestry [Choi et al 2021]
c.1496dupC	p.Ala500CysfsTer9	Common recurrent germline variant in persons of Korean & Japanese ancestry [Choi et al 2021]
c.1574G>A	p.Arg525His	Most common somatic variant; also reported in the germline [Kadono et al 2016, Lewinsohn et al 2016, Cheah et al 2017]

Reference Sequences

DNA Nucleotide
Change

Predicted
Protein Change

Comment [Reference]

c.3G>A

p.Met1Ile
(p.M1?)

Common recurrent germline variant, esp in persons of European ancestry [Cheah et al 2017, Quesada et al 2019, Bannon et al 2021]

c.19G>T

p.Glu7Ter

Common recurrent germline variant in persons of Korean & Japanese ancestry [Choi et al 2021]

c.62_63delGC

p.Ser21ThrfsTer7

Recurrent germline variant in persons of Thai ancestry [Polprasert et al 2020]

c.121C>T

p.Gln41Ter

Common recurrent germline variant, esp in persons of European ancestry [Bannon et al 2021]

c.415_418dupGATG

p.Asp140GlyfsTer2

Common recurrent germline variant, esp in persons of European ancestry [Polprasert et al 2015, Cheah et al 2017, Quesada et al 2019, Bannon et al 2021]

c.455T>G

p.Val152Gly

Common recurrent germline variant in persons of Korean ancestry [Choi et al 2021]

c.517G>A

p.Gly173Arg

Common recurrent germline variant, esp in persons of European ancestry [Sébert et al 2019]

c.776A>G

p.Tyr259Cys

Common recurrent germline variant in persons of Korean & Japanese ancestry [Choi et al 2021]

c.1496dupC

p.Ala500CysfsTer9

Common recurrent germline variant in persons of Korean & Japanese ancestry [Choi et al 2021]

c.1574G>A

p.Arg525His

Most common somatic variant; also reported in the germline [Kadono et al 2016, Lewinsohn et al 2016, Cheah et al 2017]

From: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia

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