Table 7. [Notable CFTR Variants]. - GeneReviews®

Reference Sequences	DNA Nucleotide Change (Alias ¹)	Predicted Protein Change	Comment [Reference]
NM_000492.4 NP_000483.3	c.350G>A	p.Arg117His	See Genotype-Phenotype Correlations.
c.1364C>A	p.Ala455Glu
c.1521_1523delCTT	p.Phe508del	Most common pathogenic variant in individuals of Northern European ancestry; founder variant in Amish, Ashkenazi Jewish, Faroe Islander, & Hutterite populations.
c.1652G>A	p.Gly551Asp	Gating variant responsive to ivacaftor; see Genotype-Phenotype Correlations.
NM_000492.4	c.2657+5G>A	--	Intronic pathogenic variant incl in ACMG 23-variant panel (See CFTR-specific laboratory technical considerations.)
NM_000492.4 NP_000483.3	c.3302T>A	p.Met1101Lys	Founder variant in Hutterite population [Zielenski et al 1993, Chong et al 2012, Triggs-Raine et al 2016]
NM_000492.4	c.3718-2477C>T	--	Intronic pathogenic variant incl in ACMG 23-variant panel (See CFTR-specific laboratory technical considerations.)
NM_000492.4 NP_000483.3	c.3846G>A	p.Trp1282Ter	Founder variant in Ashkenazi Jewish population [Scott et al 2010, Lazarin et al 2013]
c.3484C>T	p.Arg1162Ter	Founder variant in Zuni population [Kessler et al 1996]
NM_000492.3	c.1210-12T[5_9] (5T/7T/9T)	--	See Genetic Modifiers, CFTR poly T tract.
c.1210-34TG[11_13] (11TG/12TG/13TG)	--	See Genetic Modifiers, CFTR poly TG tract.

Reference Sequences

DNA Nucleotide Change
(Alias ¹)

Predicted
Protein Change

Comment [Reference]

NM_000492.4
NP_000483.3

c.350G>A

p.Arg117His

See Genotype-Phenotype Correlations.

c.1364C>A

p.Ala455Glu

c.1521_1523delCTT

p.Phe508del

Most common pathogenic variant in individuals of Northern European ancestry; founder variant in Amish, Ashkenazi Jewish, Faroe Islander, & Hutterite populations.

c.1652G>A

p.Gly551Asp

Gating variant responsive to ivacaftor; see Genotype-Phenotype Correlations.

NM_000492.4

c.2657+5G>A

Intronic pathogenic variant incl in ACMG 23-variant panel (See CFTR-specific laboratory technical considerations.)

NM_000492.4
NP_000483.3

c.3302T>A

p.Met1101Lys

Founder variant in Hutterite population [Zielenski et al 1993, Chong et al 2012, Triggs-Raine et al 2016]

NM_000492.4

c.3718-2477C>T

Intronic pathogenic variant incl in ACMG 23-variant panel (See CFTR-specific laboratory technical considerations.)

NM_000492.4
NP_000483.3

c.3846G>A

p.Trp1282Ter

Founder variant in Ashkenazi Jewish population [Scott et al 2010, Lazarin et al 2013]

c.3484C>T

p.Arg1162Ter

Founder variant in Zuni population [Kessler et al 1996]

NM_000492.3

c.1210-12T[5_9]
(5T/7T/9T)

See Genetic Modifiers, CFTR poly T tract.

c.1210-34TG[11_13]
(11TG/12TG/13TG)

See Genetic Modifiers, CFTR poly TG tract.

From: Cystic Fibrosis

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